Pediatric glossary of terms expanded

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Pediatric glossary of terms | Glossary of medical terms | Dictionary of pediatrics

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10p13-p14 deletion syndrome a congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. The nebl gene, encoding nebulette, a heart-specific component of the sarcomere, may be responsible for the clinical findings. The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections    
11 beta-hydroxysteroid dehydrogenase type 2 deficiency decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the hsd11b2 gene. Resultant elevated cortisol concentrations in the kidney activate the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia    
11-beta-hydroxylase deficiency decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the cyp11b1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46xx infants and hypertension    
11-beta-hydroxysteroid dehydrogenase type 1 deficiency decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the hsd11b1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from h6pd deficiency    
17-alpha-hydroxylase/17,20 lyase deficiency decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the cyp17a1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,xy infants due to reduced 17,20 lyase activity    
17-beta-hydroxysteroid dehydrogenase 3 deficiency decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the hsd17b3 gene, leading to reduced testosterone production    
21-hydroxylase deficiency a classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants    
22q deletion syndrome(s) a congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. Digeorge syndrome is associated with abnormalities of chromosome 22. Also known as digeorge anomaly    
3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia due to presumed mutation(s) in the hsd3b2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,xy infants may have incomplete development of the genitalia, while 46,xx infants may have virilization    
3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the auh gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis    
45,x/46,xy gonadal dysgenesis a congenital condition characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,x/46,xy.  45,x/46,xy mosaic is the most common form of mixed gonadal dysgenesis    
46,xx differences of sex development conditions affecting individuals with 46,xx karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures    
46,xx gonadal dysgenesis gonadal dysgenesis in an individual with 46,xx karyotype and female phenotype    
46,xx ovotesticular difference of sex development the presence of ovarian and testicular tissue in the an individual with 46,xx karyotype. The anatomical expression of this condition is variable   46,xx true hermaphroditism]]
46,xx testicular differences of sex development presence of testes in an individual with a 46,xx karyotype, typically associated with translocation of the sry gene, encoding the transcription factor sex-determining region y protein, from the paternal y chromosome to the paternal x chromosome during gametogenesis (sry-positive). Approximately 15-20% of individuals with 46,xx testicular dsd are sry-negative. These individuals may have other genetic variations affecting testis determination, such as duplication of the sox9 gene, which encodes the transcription factor sox-9    
46,xx/46,xy ovotesticular differences of sex development ovotesticular differences of sex development in individuals with 46,xy/46,xx mosaic karyotype    
46,xy differences of sex development differences of sex development in individuals with 46,xy karyotype    
46,xy disorder of androgen action conditions in 46,xy individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced    
46,xy gonadal dysgenesis gonadal dysgenesis in an individual with 46.Xy karyotype    
46,xy ovotesticular differences of sex development the presence of ovarian and testicular tissue in the an individual with 46,xy karyotype. The anatomical expression of this condition is variable   46,xy true hermaphroditism]]
47,xxx syndrome a condition caused by the presence of an extra x chromosome resulting in 47,xxx karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language    
47,xyy syndrome a condition caused by the presence of an extra y chromosome resulting in 47,xyy karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal    
5 alpha steroid reductase 2 deficiency an autosomal recessive inherited disorder caused by mutations in the srd5a2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism    
5-alpha-reductase deficiency deficiency of 5-alpha-reductase type 2 in genital tissues resulting in reduced local concentration of dihydrotestosterone (dht)    
5,10-methylenetetrahydrofolate reductase deficiency a rare disorder associated with mental retardation, spasticity, and early death    
a1 hydronephrosis antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (aprpd) of 4 to less than 7 mm at less than 28 weeks, 2) to less than10 mm at greater than or equal to 28 weeks, and 3) may have central calyceal dilation. (adapted from: hiep t. Nguyen, carol b. Benson, bryann bromley, jeffrey b. Campbell, jeanne chow, beverly coleman, christopher cooper, jude crino, kassa darge, c.D. Anthony herndon, anthony o. Odibo, michael j.G. Somers, deborah r. Stein; multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (utd classification system); pediatric urology; december 2014 volume 10, issue 6, pages 982-998)]]    
a2/3 hydronephrosis antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (aprpd) of greater than or equal to 7mm at less than 28 weeks, 2) greater than or equal to10 mm at greater than or equal to 28 weeks, or 3) any one of the following findings: a)dilation of peripheral calyces, b) abnormal parenchymal thickness or appearance, c) visibly dilated ureter, d) an abnormal bladder, or e) the presence of oligohydramnios suspected to be related to the urinary tract. (adapted from: hiep t. Nguyen, carol b. Benson, bryann bromley, jeffrey b. Campbell, jeanne chow, beverly coleman, christopher cooper, jude crino, kassa darge, c.D. Anthony herndon, anthony o. Odibo, michael j.G. Somers, deborah r. Stein; multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (utd classification system); pediatric urology; december 2014 volume 10, issue 6, pages 982-998)]]    
aarskog syndrome an x-linked condition associated in a subset of cases with mutation(s) in the fgd1 gene, encoding a complex signaling protein containing fyve, rhogef, and ph domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay    
abdominal aorta thrombosis formation of blood clot in the lumen of the abdominal aorta. It may lead to severe abdominal pain and ischemic necrosis of the intestine    
abdominal distention swelling of the abdomen resulting from excessive food intake, malnutrition, liver disease, primary abdominal tumors, and tumors metastatic to the abdominal cavity    
abdominal migraine paroxysmal episodes of intense, acute periumbilical pain that lasts for one or more hours with intervening periods of usual health lasting weeks to months, with no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the symptoms. The pain interferes with normal activities and is associated with at least two of the following symptoms: anorexia, nausea, vomiting, headache, photophobia, and/or pallor    
abdominal pain painful sensation in the abdominal region    
abdominal pregnancy ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs    
abnormal behavior conduct that is unusual for the individual    
abnormal liver function test atypical results found on serum liver enzyme testing, which may indicate significant disease and/or disease progression    
abo hemolytic disease of newborn a condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-a or anti-b antibodies from a mother to the child via the placenta against a or b antigens of the newborn's blood    
abortion the unintentional or intentional loss of a pregnancy before 22 weeks gestation    
abrasion superficial damage to the skin caused by rubbing or scraping    
abscess an inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body    
absence of bowel movement the lack of any bowel movements    
absent baseline variability a baseline fetal heart rate with an undetectable amplitude range    
absent physiologic conversion of uteroplacental vessel failure of the maternal spiral arteries to be transformed by extravillous cytotrophoblast to increase blood flow into the placental intervillous spaces, which may lead to an increased risk of early-onset pre-eclampsia and fetal growth restriction    
acampomelic campomelic dysplasia (aq) a variant of campomelic dysplasia characterized by the absence of skeletal dysplasia    
acanthosis nigricans a melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy    
accelerated growth a finding indicating a faster than normal rate of development    
accelerated placental villous maturation placental villous histology not typical of gestational age, with features of more mature villi    
accidental medicine ingestion the unintentional consumption of a drug    
ace inhibitor any substance that inhibits angiotensin-converting enzyme (ace), an enzyme that catalyzes the conversion of angiotensin I to angiotensin ii. Inhibition of ace results in a reduction in angiotensin ii and angiotensin ii-induced aldosterone secretion, causing vasodilation and natriuresis    
achondroplasia an autosomal dominant disorder caused by mutation(s) in the fgfr3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia    
acid-labile subunit deficiency reduced serum concentration of the acid-labile subunit (als, a protein encoded by the igfals gene) of the complex usually comprised of igf-I, igfbp-3 and als    
acne an inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin    
acoria absence of satiety after eating    
acquired adrenocorticotropic hormone deficiency adrenocorticotropic hormone (acth) deficiency, the cause of which is not present at birth    
acquired bilateral cataracts cataracts in both eyes that result from the aging process, an injury, or as a manifestation of a systemic disorder    
acquired cataract cataract that results from the aging process, an injury, or as a manifestation of a systemic disorder    
acquired central hypothyroidism central hypothyroidism, the cause of which is not present at birth    
acquired chylothorax chylothorax that results from malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, or sarcoidosis    
acquired coagulation factor deficiency deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin k deficiency, amyloidosis, and severe liver disease    
acquired color blindness non-heritable difficulty in distinguishing colors    
acquired cytomegaloviral infection an infection with the cytomegalovirus that is not present from birth    
acquired facial nerve palsy a condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve that has occurred after birth    
acquired factor I deficiency an acquired coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood    
acquired factor ii deficiency an acquired coagulation disorder characterized by the partial or complete absence of prothrombin (factor ii) activity in the blood    
acquired factor iii deficiency an acquired coagulation disorder characterized by the partial or complete absence of tissue factor (factor iii) activity in the blood    
acquired factor ix deficiency an acquired coagulation disorder characterized by the partial or complete absence of factor ix activity in the blood    
acquired factor v deficiency an acquired coagulation disorder characterized by the partial or complete absence of factor v activity in the blood    
acquired factor vii deficiency an acquired coagulation disorder characterized by the partial or complete absence of factor vii activity in the blood    
acquired factor viii deficiency an acquired coagulation disorder characterized by the partial or complete absence of factor viii activity in the blood    
acquired factor x deficiency an acquired coagulation disorder characterized by the partial or complete absence of factor x activity in the blood    
acquired factor xi deficiency an acquired coagulation disorder characterized by the partial or complete absence of factor xi activity in the blood    
acquired factor xii deficiency an acquired coagulation disorder characterized by the partial or complete absence of factor xii activity in the blood    
acquired factor xiii deficiency an acquired coagulation disorder characterized by the partial or complete absence of factor xiii activity in the blood    
acquired generalized lipodystrophy generalized lipodystrophy, the cause of which is not present at birth    
acquired growth hormone deficiency growth hormone deficiency that is not present at birth; this condition may result from a variety of causes such as intracranial tumors or their treatment, infection, trauma or other cause    
acquired hemolytic anemia hemolytic anemia, the cause of which is not present at birth    
acquired hydrocephalus hydrocephalus that results from head trauma, brain tumors, intracranial hemorrhage, or meningitis    
acquired hyperthyroidism hyperthyroidism, the cause of which is not present from birth    
acquired hypogonadotropic hypogonadism hypogonadotropic hypogonadism, the cause of which is not present from birth    
acquired hypoparathyroidism hypoparathyroidism, the cause of which is not present at birth    
acquired hypothyroidism hypothyroidism, the cause of which is not present at birth    
acquired ichthyosis a non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso    
acquired immunodeficiency disease a syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (hiv). It is characterized by the reduction of the helper t-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with aids are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (cmv) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-hodgkin lymphoma and kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood    
acquired methemoglobinemia methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods    
acquired neurogenic bladder neurogenic bladder, the cause of which is not present at birth    
acquired ovarian failure ovarian failure, the cause of which is not present at birth    
acquired partial lipodystrophy partial lipodystrophy, the cause of which is not present at birth. Examples include lipodystrophy associated with human immunodeficiency virus (hiv) therapy, and barraquer-simons syndrome, associated with c3 nephritic factor    
acquired phrenic nerve injury damage to the phrenic nerve that was not present at birth    
acquired phrenic nerve palsy damage to the phrenic nerve that results in paralysis of the hemidiaphragm and was not present at birth    
acquired pure red cell aplasia a disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia and selective erythroid hypoplasia. It can occur as a chronic or acute form; the former is predominantly seen in adults and the latter in children. Pathogenesis involves immune dysfunction with antibodies directed against erythroid precursor cells or erythropoietin, or due to t-cell mediated suppression of erythropoiesis    
acquired rickets rickets that is caused by vitamin d deficiency, hypocalcemia, or renal failure    
acquired solitary kidney a finding of one kidney after the loss of the second, whether due to injury, disease or surgery    
acquired testicular failure testicular failure, the cause of which is not present at birth    
acquired thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura for which the cause is not present at birth    
acquired unilateral cataract a cataract in one eye that results from the aging process, an injury, or as a manifestation of a systemic disorder    
acquired urinary tract obstruction a urinary tract obstruction, the cause of which is not present at birth    
acral erythema reddening of the palmar and plantar regions of the body with occasional involvement of the distal extremities    
acrocephalosyndactyly a genetic disorder characterized by craniosynostosis and fusion of the fingers and toes    
acromegaly a syndrome characterized by enlargement of the hands, feet, ears, nose, lips, and tongue, skin thickening and swelling of internal organs. It is caused by overproduction of growth hormone in the pituitary gland, usually by a pituitary adenoma    
acth-producing pituitary adenoma an adenoma of the pituitary gland that produces corticotropin.  the vast majority of cases are associated with cushing disease.  clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily.  silent or hormonally non-functioning acth producing adenomas have also been described.  they produce symptoms of a mass-related lesion    
activating thyroid stimulating hormone receptor gene mutation mutation(s) in the tshr gene resulting in increased function of the thyroid stimulating hormone receptor    
active phase of labor accelerated cervical dilation typically beginning at 6 cm    
acute anterior uveitis sudden onset of anterior uveitis, usually unilateral, and associated with pain, erythema, photophobia, and blurred vision. Often associated with hla-b27, with or without co-existing spondyloarthritis    
acute basophilic leukemia a rare acute myeloid leukemia in which the immature cells differentiate towards basophils    
acute bilineal leukemia an acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or b-and t-lymphocyte).  (who, 2001)]]    
acute biphenotypic leukemia an acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and t or b lineage antigens or concurrent b and t lineage antigens.  (who, 2001)]]    
acute cellular kidney allograft nephropathy a sudden onset of t-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens    
acute cortical necrosis acute kidney injury caused by ischemic necrosis of the renal cortex    
acute disseminated encephalomyelitis an inflammatory process affecting the central nervous system. It is characterized by perivascular demyelination. Symptoms usually follow an acute viral infection or immunization and include fever, confusion, somnolence and involuntary movements. It may lead to coma and death    
acute erythroid leukemia an acute myeloid leukemia characterized by a predominant immature erythroid population.  there are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (who, 2001)]]    
acute flaccid myelitis an acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or csf pleocytosis, but which is without an apparent cause    
acute generalized exanthematous pustulosis a widespread acute rash characterized by fever and multiple small pustules on a reddish background    
acute glomerulonephritis an acute inflammation of the glomeruli, generally secondary to infection or injury    
acute graft versus host disease a syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and gi tract. The onset is usually within one hundred days of transplantation or immunologic manipulation    
acute hemorrhagic edema of infancy a self-limiting cutaneous vasculitis that typically presents as a clinical triad of purpura, edema, and fever in children between the ages of four months and two years old. It is usually associated with a recent history of upper respiratory infection and/or antibiotic therapy    
acute humoral kidney allograft nephropathy a sudden onset of b-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens    
acute inflammatory demyelinating polyradiculoneuropathy a subtype of guillain-barre syndrome that targets the myelin sheath, and is characterized by progressive weakness, distal paresthesia and autonomic dysfunction    
acute intervillous thrombus a focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is less than 1-2 days in age    
acute intrapartum hypoxic event a sentinel hypoxic event occurring during labor, with evidence of fetal metabolic acidosis in the fetal umbilical arterial blood; a sudden and sustained fetal bradycardia or the absence of fetal heart rate variability in the presence of persistent, late, or variable decelerations (category iii tracing); previously normal apgar scores that are 0-3 beyond 5 minutes    
acute kidney allograft nephropathy a sudden immune response occurring after transplantation, directed against donor kidney alloantigens    
acute kidney injury sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria    
acute leukemia of ambiguous lineage an acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (who, 2001)]]    
acute liver failure rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections    
acute lymphoblastic leukemia leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute b lymphoblastic leukemia and acute t lymphoblastic leukemia    
acute megakaryoblastic leukemia an acute myeloid leukemia in which at least 50% of the blasts are of megakaryocytic lineage. (who, 2001)]]    
acute monoblastic and monocytic leukemia acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features    
acute motor and sensory axonal neuropathy a subtype of guillain-barre syndrome that targets sensory motor axons, and is characterized by acute onset of quadriparesis, distal sensory loss, areflexia, and respiratory insufficiency    
acute motor axonal neuropathy a subtype of guillain-barre syndrome that targets motor axons, and is characterized by symmetric limb weakness, diffuse areflexia, facial and oropharyngeal muscle weakness, and respiratory insufficiency    
acute myeloid leukemia a clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (amls) encompasses four major categories: 1) aml with recurrent genetic abnormalities; 2) aml with multilineage dysplasia; 3) therapy-related aml; 4) aml not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of aml is 20% (who classification)    
acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13;q13); rbm15-mkl1 an acute myeloid leukemia associated with t(1;22)(p13.3;q13.1) resulting in the expression of rbm15-mkl1 fusion protein. It affects infants and children and usually shows megakaryocytic maturation    
acute myeloid leukemia occurring in children with down syndrome acute myeloid leukemia or myelodysplastic syndrome occurring in children with down syndrome.  the acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with gata1 gene mutation    
acute myeloid leukemia with a variant rara translocation a term referring to acute myeloid leukemias which show variant translocations involving the rara gene.  the variant fusion partners include numa1, zbtb16, stat5b, and npm1.  these leukemias often have the morphologic features of acute promyelocytic leukemia    
acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); cbfb-myh11 an acute myeloid leukemia with monocytic and granulocytic differentiation and the presence of a characteristically abnormal eosinophil component in the bone marrow.  this type of acute myeloid leukemia has a favorable prognosis.  (who, 2001)]]    
acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); rpn1-evi1 an acute myeloid leukemia associated with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2) resulting in the reposition of a distal gata2 enhancer to activate mecom expression. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive    
acute myeloid leukemia with maturation an acute myeloid leukemia (aml) characterized by blasts with evidence of maturation to more mature neutrophils. (who, 2001)]]    
acute myeloid leukemia with minimal differentiation an acute myeloid leukemia (aml) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (who, 2001)]]    
acute myeloid leukemia with mutated cebpa an acute myeloid leukemia with non-germline mutations of the cebpa gene    
acute myeloid leukemia with mutated npm1 an acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy    
acute myeloid leukemia with myelodysplasia-related changes an acute myeloid leukemia with at least 20% blasts in the bone marrow or blood, and either a previous history of myelodysplastic syndrome, multilineage dysplasia or myelodysplastic syndrome-related cytogenetic abnormalities.  there is no history of prior cytotoxic therapy for an unrelated disorder, and there is absence of the cytogenetic abnormalities that are present in acute myeloid leukemia with recurrent genetic abnormalities    
acute myeloid leukemia with recurrent genetic abnormalities a group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations.  (who, 2001)]]    
acute myeloid leukemia with t(11;15)(p15;q35); nup98-jarid1a acute myeloid leukemia with a cytogenetically cryptic fusion of nup98 to jarid1a, t(11;15)(p15;q35). It typically has a megakaryocytic phenotype and occurs in 10% of pediatric, non-down syndrome-related acute megakaryoblastic leukemia cases    
acute myeloid leukemia with t(11;17)(q13;q21) acute myeloid leukemia with the variant rara t(11;17)(q13;q21) and the expression of numa1-rara fusion protein    
acute myeloid leukemia with t(11;17)(q23;q21) acute myeloid leukemia with the variant rara t(11;17)(q23;q21) and the expression of plzf-rara fusion protein.  it lacks differentiation response to retinoids treatment    
acute myeloid leukemia with t(17;17)(q21;q21) acute myeloid leukemia with the variant rara t(17;17)(q21;q21) and the expression of stat5b-rara fusion protein    
acute myeloid leukemia with t(5;11)(q35;p15); nup98-nsd1 acute myeloid leukemia with often cytogenetically cryptic fusion of nup98 (chromosome 11p15) with nsd1 (chromosome 5q35). This alteration occurs in 4% of pediatric aml cases    
acute myeloid leukemia with t(5;17)(q35;q21) acute myeloid leukemia with the variant rara t(5;17)(q35;q21) and the expression of npm1-rara fusion protein    
acute myeloid leukemia with t(6;9)(p23;q34); dek-nup214 an acute myeloid leukemia associated with t(6;9)(p23;q34.1) resulting in dek-nup214(can) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. It affects both children and adults and it usually has an unfavorable clinical outcome    
acute myeloid leukemia with t(7;12)(q36;p13); hlxb9-etv6 an acute myeloid leukemia in infancy characterized by t(7;12)(q36;p13) and fusion of the homeobox gene hlxb9 (mnx1) with the etv6 gene    
acute myeloid leukemia with t(8;21)(q22;q22); runx1-runx1t1 an acute myeloid leukemia with t(8;21)(q22; q22.1) giving rise to runx1/runx1t1 fusion transcript and showing maturation in the neutrophil lineage. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. This type of aml is associated with good response to chemotherapy and high complete remission rate    
acute myeloid leukemia with t(9;11)(p22;q23); mllt3-mll an acute myeloid leukemia associated with t(9;11)(p21.3;q23.3) and mllt3-kmt2a fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation    
acute myeloid leukemia with variant mll translocations a term referring to acute myeloid leukemias with rearrangement of the mll gene which results in translocations with various genes other than the mllt3 (af9) gene    
acute myeloid leukemia without maturation an acute myeloid leukemia (aml) characterized by blasts without evidence of maturation to more mature neutrophils. (who, 2001)]]    
acute myelomonocytic leukemia an acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.  (who, 2001)]]    
acute otitis media inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space    
acute placental infarct a focus of necrotic placental parenchyma with clearly visible outlines of necrotic villous structures and absence of any hyalinization and fibrosis, which is frequently 1-2 days of duration    
acute poliomyelitis an acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine    
acute promyelocytic leukemia with t(15;17)(q22;q12); pml-rara an acute myeloid leukemia (aml) in which abnormal promyelocytes predominate. It is characterized by the pml-rara fusion. There are two variants: the typical and microgranular variant.  this aml is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (who)]]    
acute pyelonephritis sudden onset pyelonephritis    
acute respiratory failure life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock    
acute sinusitis sinusitis lasting less than or equal to thirty days    
acute stress disorder an anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month    
acute suppurative thyroiditis thyroiditis due to a bacterial infection    
acute transverse myelitis a neurologic disorder that is caused by inflammation across both sides of one level, or segment, of the spinal cord. (from ninds)]]    
acute tubular necrosis acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics    
acute undifferentiated leukemia a rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage    
acute uric acid nephropathy kidney damage resulting from uric acid precipitation within the renal tubules    
addison disease a long-standing and persistent diminished production of adrenocortical hormones due to a disorder originating within the adrenal glands    
address a standardized representation of the location of a person, business, building, or organization    
adenovirus infection an infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis    
adipose tissue deposition the deposition of lipids in tissue    
adipsic diabetes insipidus diabetes insipidus complicated by a deficient or absent thirst response to hyperosmolality, usually as a result of hypothalamic damage or dysfunction    
adolescence a human life stage that begins at twelve years of age and continues until twenty-one complete years of age, generally marked by the beginning of puberty and lasting to the beginning of adulthood    
adrenal androgen deficiency abnormally low or absent secretion of the androgen precursor hormones dehydroepiandrosterone (dhea), dhea sulfate, and androstenedione, from the adrenal gland    
adrenal androgen excess excessive secretion of the androgen hormones dehydroepiandrosterone (dhea), dhea sulfate, and androstenedione, from the adrenal gland. Clinical manifestations may include virilization    
adrenal crisis a life threatening condition due to inadequate levels of glucocorticoids in an individual with adrenal insufficiency    
adrenal hemorrhage hemorrhage and necrosis of the adrenal gland tissue. Bilateral and extensive hemorrhage may lead to acute adrenal insufficiency, shock, and death    
adrenal hypoplasia congenita a rare genetic disorder that affects the adrenal gland.  it usually presents in infancy with signs and symptoms of adrenal insufficiency.  if it is not recognized and treated promptly, it may be lethal    
adrenal insufficiency an endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (addison's disease or primary adrenal insufficiency) or to inadequate secretion of acth by the pituitary gland (secondary adrenal insufficiency)    
adrenocorticotropic hormone deficiency subnormal concentration of adrenocorticotropic hormone (acth) resulting in decreased secretion of cortisol by the adrenal gland   secondary hypoadrenalism]]
adrenoleukodystrophy a rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death    
adult intestinal botulism a rare form of botulism that occurs among adults by the same mechanism as infant botulism    
african trypanosomiasis a parasitic disorder caused by protozoa of the trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of sub-saharan africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death   sleeping sickness]]
agalactia lack of production or secretion of breast milk    
ageusia inability to taste    
aggression a verbal or physical act of hostility    
agitation a state of restlessness associated with unpleasant feelings of irritability and tension. Causes include pain, stress, fever, alcohol and nicotine withdrawal, cocaine and hallucinogenic drugs use, depression, bipolar disorders, and schizophrenia    
agonal respiration an abnormal breathing pattern originating from lower brainstem neurons and characterized by labored breaths, gasping, and, often, myoclonus and grunting    
agoraphobia an anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop    
agranulocytosis a marked decrease in the number of mature granulocytes (most often neutrophils) in the peripheral blood    
air embolism the presence of bubbles of air in the vascular system; occurrence is related to the entry of air into the venous circulation following trauma or surgery    
airborne transmission the direct transmission of an infectious agent to a host via droplet nuclei (less than or equal to five microns) or dust suspended in the air    
airway compromise the inhibition of normal respiration by physical obstruction(s) to the airway    
airway hemangioma a rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease    
akathisia an uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications    
akinesia lack of movement    
alagille syndrome an autosomal dominant genetic syndrome caused by mutations in the jag1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation    
albinism a congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin    
albright hereditary osteodystrophy a rare, autosomal dominant syndrome caused by mutations in the gnas gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism    
albright hereditary osteodystrophy with multiple hormone resistance parathyroid hormone (pth) resistance caused by heterozygous inactivating mutation(s) of the maternal allele of the gnas gene encoding gs-alpha, resulting in expression of pth from only the paternal allele. Clinical manifestations include albright hereditary osteodystrophy, early-onset obesity, and, in some cases, resistance to thyroid-stimulating hormone, gonadotropins, and growth hormone-releasing hormone, reflecting additional manifestations of gs-alpha deficiency    
albright hereditary osteodystrophy without multiple hormone resistance a condition caused by inactivating mutation(s) in the paternal allele of the gnas gene, encoding gs-alpha, resulting in expression of the gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of albright hereditary osteodystrophy without hormone resistance    
alcohol use history a description of an individual's current and past experience with alcoholic beverage consumption    
aldosterone deficiency abnormally low levels of aldosterone in the blood    
aldosterone synthase deficiency an autosomal recessive condition due to mutation(s) in the cyp11b2 gene that results in decreased activity of mitochondrial cytochrome p450 11b2 with reduced aldosterone synthesis and salt wasting    
aldosterone synthase deficiency type 1 aldosterone synthase deficiency characterized by decreased conversion of corticosterone to 18-hydroxycorticosterone    
aldosterone synthase deficiency type 2 aldosterone synthase deficiency characterized by decreased conversion of 18-hydroxycorticosterone to aldosterone    
alice in wonderland syndrome a neurological syndrome characterized by distorted perceptions of shape, loss of sense of time, and visual, auditory, and tactile hallucinations    
allantoic cyst an umbilical cyst that arises from allantoic tissue that did not regress during gestational development. Most cases involve a patent urachus that allows for communication to the urinary bladder    
allergen a substance that elicits an allergic reaction    
allergic bronchopulmonary aspergillosis an immune reaction to aspergillus in patients usually suffering from asthma or cystic fibrosis    
allergic reaction an immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of ige to mast cells, and may worsen with repeated exposures    
allergic rhinitis inflammation of the nasal mucous membranes caused by an ige-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life    
allis clamp fetal scalp stimulation a fetal stimulation technique that uses an allis clamp applied transvaginally to the fetal head to elicit a fetal heart rate acceleration response during labor    
allogeneic taken from different individuals of the same species    
alloimmunization an immune response to foreign (donor) antigens    
alopecia hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions    
alpers disease a rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the gene for the mitochondrial dna polymerase polg. Clinical signs are usually not present at birth but develop within the first two years of life and include hypoglycemia from underlying liver dysfunction, failure to thrive, spasticity, myoclonus and seizures. The clinical course follows a progression of neurologic disability and hepatic failure. The prognosis is poor with survival outside the first decade unlikely    
alpha fetoprotein increased a laboratory test result indicating an increase in the concentration of alpha fetoproteins in the blood    
alpha thalassemia a genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule    
alpha thalassemia silent carrier a condition in which a person has reduced protein production from one of the four alpha-globin alleles    
alpha thalassemia trait a condition in which a person has reduced protein production from two of the four alpha-globin alleles    
alpha-1-antitrypsin deficiency a genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure    
alpha-beta t-cell depletion restriction of the t-cell population in stem cell transplants to those expressing only the gamma-delta receptor. Alpha-beta receptors are expressed on the majority of peripheral blood t-cells and are the primary mediators of graft versus host disease    
alpha-fetoprotein measurement the determination of the amount of alpha-fetoprotein present in a sample    
alport syndrome a genetic syndrome usually inherited as an x-link trait. It is caused by abnormalities in the col4a5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities    
alström syndrome a rare autosomal recessive syndrome caused by mutations in the gene alms1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure    
altered level of consciousness a level of awareness and arousal other than normal    
altered mental status a change to an individual's judgment, orientation (to place, time, and self), intellectual functioning, or mood from their baseline    
alveolar capillary dysplasia a rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy    
amastia absence of one or both mammary glands    
amaurosis fugax transient, monocular loss of vision    
amblyopia decreased vision that results from abnormal visual development    
ambulation difficulty any persistent problem with walking    
amebiasis a parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs    
amelia a congenital malformation characterized by the complete absence of all limbs    
amenorrhea the absence of menses in a woman who has achieved reproductive age    
american college of rheumatology classification criteria for juvenile rheumatoid arthritis a set of antiquated criteria used to assign children with chronic arthritis to one of the three mutually exclusive categories    
american college of rheumatology classification criteria for systemic lupus erythematosus the classification of systemic lupus erythematosus based on eleven criteria. Intended to be used as inclusion criteria for clinical studies, a person is defined as having systemic lupus erythematosus if any four or more of the eleven criteria are present, serially or simultaneously, during any interval of observation    
american college of rheumatology pediatric core set for juvenile arthritis a set of criteria used to assess clinical response (improvement) or worsening (flare), in juvenile idiopathic arthritis clinical trials    
amino acid measurement the measurement of the amount of amino acids in a biologic specimen    
amino acid metabolism disorder an inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria    
amnesia systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories    
amniocentesis a prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. This procedure is used to detect various genetic abnormalities in the fetus and/or the sex of the fetus    
amnion epithelium necrosis loss of the amnionic epithelial surface    
amnion nodosum an amnion with nodular deposits of squamous and cellular debris with varying staging of re-epithelialization    
amniotic band syndrome a rare congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. It may result in the formation of constriction rings around the digits and upper and lower extremities, swelling of the extremities and congenital amputations    
amniotic fluid embolism acute hypotension or cardiac arrest, acute hypoxia or coagulopathy in the absence of any other potential explanation related to the presence of amniotic fluid or the fetal debris within the maternal vascular system during the antepartum or intrapartum period    
amotivation lack of drive to participate in social activities or goal oriented behavior    
anaphylaxis an acute hypersensitive immune response that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting    
anaplasmosis an infection that is caused by anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia    
anaplastic embryonal rhabdomyosarcoma a morphologic variant of embryonal rhabdomyosarcoma.  it is characterized by the presence of large hyperchromatic and anaplastic cells    
anaplastic thyroid carcinoma a primary carcinoma of the thyroid gland composed of undifferentiated cells.  the malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive    
anasarca a condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition    
anatomic structure, system, or substance a human biological structure, fluid or other substance; excludes single molecular entities    
androgen insensitivity syndrome a disorder of sexual development in persons with 46xy karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics    
anemia a reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability    
anemia due to decreased production anemia that results from a decreased rate of erythropoiesis    
anemia due to disorder of glutathione metabolism anemia resulting from an abnormality of glutathione deficiency    
anemia due to disorder of nucleotide metabolism a group of hemolytic anemias that result from either the deficiency or overproduction of several enzymes involved in metabolizing nucleotides    
anemia due to enzyme disorder any form of anemia that results from the absence of, or the defective action of, any enzyme    
anemia due to erythrocyte enzyme disorder any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis    
anemia due to increased destruction anemia that results from an increased rate of erythrocyte destruction    
anemia of chronic disease anemia due to a disorder that is persistent or long-standing in nature    
anemia of prematurity a blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition    
anencephaly a rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus    
anergy diminished immune responsiveness to specific antigens. Induced or programmed clonal lymphocyte anergy is believed to be the second major mechanism (after clonal deletion) of the development of self tolerance by the immune system    
anesthesia procedure treatment with a pharmacological substance that produces a loss of feeling    
aneurysm bulging or ballooning in an area of an artery secondary to arterial wall weakening    
angelman syndrome a genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the ube3a gene    
anger an emotional state characterized by marked annoyance or hostility    
angina paroxysms of chest pain due to reduced oxygen to the heart    
angioedema rapid swelling of the deep layers of the skin due to transient vascular leakage of serous fluid    
angiomatosis a benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling    
angiostrongyliasis an infection that is caused by nematodes of the genus angiostrongylus; signs and symptoms are dependent on the invading species, but generally include gastrointestinal symptoms and fever, and can have extraintestinal manifestations (e.G., central nervous system, anterior and posterior eye)    
angiotensin converting enzyme inhibitor fetopathy fetal embryopathy associated with maternal angiotensis converting enzyme (ace) inhibitor use during pregnancy that may include fetal acute renal failure, growth restriction, oligohydramnios, calvaria abnormalities, preterm birth, and pulmonary hypoplasia with respiratory distress    
angiotensin ii receptor antagonist a class of agents that act by selectively inhibiting angiotensin ii receptor activation in the renin-angiotensin-aldosterone system. Angiotensin ii receptor antagonists bind to and block the activation of angiotensin ii type 1 (at1) receptors, thereby reducing production and secretion of aldosterone, amongst other actions. The combined effects result in reduction of blood pressure. Although this class of agents is also used in diabetic nephropathy (kidney damage due to diabetes) and congestive heart failure, it is primarily used for the treatment of hypertension in cases where the patient is intolerant of ace inhibitor therapy    
angular cheilitis inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts    
anhedonia an inability to experience pleasure    
anisakiasis an infection that is caused by nematodes of the genus anisakis, which is most commonly transmitted via ingestion of infective larvae from consumption of raw or undercooked fish or squid; it is characterized by invasion of the stomach wall or intestines, resulting in the death of the worm, and triggering an inflammatory response that surrounds the worm and that can result in intestinal obstruction    
ankylosing spondylitis an autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine    
annular lesion a ring-shaped skin finding with clear central area    
annular pancreas a rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance    
anophthalmos a rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit    
anorexia loss of appetite    
anorexia nervosa a disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea    
anosmia inability to smell    
anovulation the absence of ovulation    
anovulatory cycle a menstrual cycle in which no ovulation occurs    
anoxia absence or reduction of oxygen in body tissue    
antenatal hydronephrosis hydronephrosis that occurs in a fetus    
antenatal steroids initiated at least one dose of corticosteroids administered to accelerate fetal maturation. (adapted from revitalize)]]    
antepartum hemorrhage excessive blood loss prior to onset of labor    
antepartum obstetric air embolism presence of a large air bubble in the maternal vascular system which originated from a distant site during the antepartum period    
antepartum obstetric septic embolism presence of bacterially-infected tissue in the maternal vascular system which originated from a distant site during the antepartum period    
antepartum obstetric thromboembolism presence of a blood clot in the maternal vascular system which originated from a distant site during the antepartum period    
antepartum stillbirth fetal death greater than or equal to 20 weeks of gestation prior to labor with apgar scores of 0 at 1 minute, 5 minutes and beyond    
antepartum uterine rupture an acute symptomatic tearing of the uterine wall prior to the onset of labor    
anterior segment ischemia compromise of blood supply to the anterior segment of the eye    
anterior uveitis inflammation of the iris and anterior chamber of the eye    
anthrax an infection caused by bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers    
anti-beta-2 glycoprotein 1 antibody an antiphospholipid autoantibody that reacts with beta-2-glycoprotein 1, and a member of family of autoantibodies that cause antiphospholipid antibody syndrome and may be found in system lupus erythematosus    
anti-convulsant hypersensitivity syndrome a form of drug hypersensitivity syndrome caused by anti-convulsants    
anti-d hemolytic disease of the newborn a condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against the d antigen, the most common rhesus factor    
anti-ds dna antibody a type of antinuclear antibody that specifically targets double stranded dna; while these antibodies are sometimes detectable in multiple different autoimmune disorders, their presence is generally considered highly specific for systemic lupus erythematosus    
anti-glomerular basement membrane antibody disease inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function    
anti-la antibody an antinuclear antibody directed against a 47 kda rna-binding protein in the nucleus. They can be associated with sjogren syndrome and system lupus erythematosus. Maternal anti-la antibody positivity can be associated with neonatal lupus    
anti-malarial agent agents used to treat malaria, and are usually classified based on action against plasmodia at different stages in their life cycle in the human    
anti-ribonucleoprotein antibody an antinuclear antibody directed against u1 snrnp, that is strongly associated with mixed connective tissue disease and commonly detected in lupus    
anti-ro antibody an antinuclear antibody directed against 52 or 60 kda rna-binding proteins in the nucleus. They can be associated with multiple autoimmune disorders, primarily sjogren syndrome and system lupus erythematosus. Maternal anti-ro antibody positivity can be associated with neonatal lupus    
anti-smith antibody an antinuclear antibody directed against small nuclear ribonucleoproteins (snrnps), that is highly specific, but has poor sensitivity for systemic lupus erythematosus (sle). Presence of anti-sm antibodies are associated with central nervous system, kidney, lung and cardiac involvement in sle, but are not indicative of disease activity    
antibiotic substances naturally produced by microorganisms or their derivatives that selectively target microorganisms not humans. Antibiotics kill or inhibit the growth of microorganisms by targeting components of the microbial cell absent from human cells, including bacterial cell walls, cell membrane, and 30s or 50s ribosomal subunits. These substances are used in the treatment of bacterial and other microbial infections    
antibiotic resistance the mechanisms, functions, activities, or processes exhibited by microorganisms, especially bacteria, to resist or to become tolerant to antibiotics    
antibiotic-associated colitis inflammation of the colon that is caused by an alteration in intestinal flora by antibiotic use    
antibiotic-associated diarrhea diarrhea that is associated with current or recent antibiotic use    
antibody a type of protein made by b lymphocytes in response to a foreign substance (antigen). Each antibody only binds to a specific antigen, helping to destroy the antigen directly or by assisting white blood cells to destroy the antigen    
anticardiolipin antibody an autoantibody that reacts with cardiolipin. Different immunoglobulin subclasses and isotypes are associated with different diseases and conditions. Some anticardiolipin antibodies prolong phospholipid dependent clotting while others are associated with spontaneous abortion    
antifungal substances that treat systemic or topical infections caused by fungi. Antifungal agents kill or inhibit the growth of fungi, by various mechanisms. These mechanisms include inhibition of fungal mitosis, impairing synthesis or binding to ergosterol, inhibition of rna or dna synthesis, and interfering with other fungal metabolic processes    
antimicrobial - induced nephropathy kidney damage resulting from exposure to antimicrobials    
antinuclear antibody an autoimmune antibody that is directed against structures within the nucleus of the cell    
antiparasitic any agent that is effective against infections caused by parasitic organisms and is able to inhibit their growth or kill them. This class consists of anthelmintics and antiprotozoals    
antiphospholipid antibody a class of autoantibodies directed against phospholipids or phospholipoproteins. Its presence may indicate an increased risk for hypercoagulability, pregnancy loss or autoimmune disease    
antiphospholipid antibody syndrome a disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and lyme disease    
antithrombin iii deficiency a rare disorder characterized by the presence of low levels of antithrombin iii which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism    
antiviral any agent that can treat or prevent viral infections by interfering with the viral replication cycle    
anuria absence of urine output    
anxiety apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus    
anxiety disorder a category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety    
aortic aneurysm a sac formation resulting from the localized dilatation of the wall of the aorta    
aortic dissection a progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media    
aortic valve atresia a rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure    
aortic valve stenosis narrowing of the orifice of the aortic valve    
aortopulmonary window a rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery    
apathy an emotional state of indifference characterized by a lack of interest or concern    
apgar score the numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color    
apgar score at 1 minute the numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at one minute after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color    
apgar score at 10 minutes the numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at ten minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color    
apgar score at 15 minutes the numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at fifteen minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color    
apgar score at 20 minutes the numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at twenty minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color    
apgar score at 5 minutes the numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at five minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color    
apgar test a test devised by dr. Virginia apgar to assess the overall health of a newborn upon birth. The test is administered at one and five minutes after birth and allows for the assignation of numerical values between zero and two for specific observations regarding skin color, pulse rate, reflex irritability, muscle tone and breathing    
aphagia the inability or refusal to swallow    
aphasia impairment of the expression or comprehension of verbal and written language    
apheresis a procedure that collects a component of the peripheral blood while returning the rest to the donor    
aphonia a term referring to the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic)    
aphthous ulcer a recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring    
aplasia cutis congenita localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation    
aplastic anemia anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors    
aplastic anemia due to hepatitis bone marrow failure defined as pancytopenia, secondary to hepatitis    
aplastic anemia due to infection aplastic anemia caused by an infection    
aplastic anemia due to radiation aplastic anemia caused by excessive absorption of radiation by the bone marrow    
apnea transient cessation of respiration    
apnea of prematurity the cessation of breathing in premature infants that lasts for more than 15-20 seconds    
apophysitis inflammation of a bony outgrowth located near the attachment site for muscles    
apparent life threatening event an episode during which the patient, usually a child less than one year, experiences a combination of apnea, color change, alteration in muscle tone, choking or gagging. This event can be frightening to the observer    
appendicitis acute inflammation of the vermiform appendix    
appropriate placental villous maturation placental villous microscopic features that are typical for the gestational age at birth    
aprosencephaly a very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary    
arachnoid cyst an intracranial or spinal cyst which contains fluid and is composed of arachnoid cells. Intracranial arachnoid cysts may present with headaches, seizures and hydrocephalus. Spinal arachnoid cysts may present with symptoms of radiculopathy    
arachnoiditis inflammation of the arachnoid membrane and adjacent subarachnoid space    
arakawa syndrome ii a rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly    
argininosuccinic aciduria a genetic inherited disorder caused by mutations in the asl gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation    
aristolochic acid nephropathy chronic tubulointerstitial disease resulting from aristolochic acid    
arm recoil test a test commonly administered to assess the physiologic response to extending the arms as straight as possible alongside the body when lying down    
arnold-chiari malformation a rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus    
arrest of descent after complete dilatation, failure of the fetal presenting part to descend through the pelvis    
arrest of labor in active phase more than or equal to 6 cm dilation with membrane rupture and one of the following: 4 hours or more of adequate contractions (e.G. More than 200 montevideo units), 6 hours or more of inadequate contractions and no cervical change    
arrest of labor in second stage at least 2 hours of pushing in multiparous women and at least 3 hours of pushing in nulliparous women. Longer durations may be appropriate on an individualized basis (e.G., with the use of epidural analgesia or with fetal malposition) as long as progress is being documented    
arrhythmia any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart    
arterial catheter a hollow tube that is inserted into an artery    
arterial embolism the passage of an embolus from its site of formation in the arterial system to another location within the circulatory system    
arterial ischemic stroke an acute episode of focal cerebral, spinal, or retinal dysfunction caused by infarction of brain tissue    
arterial thrombosis formation of a blood clot in the lumen of an artery    
arterial thrombosis related to vascular access complication the formation of a thrombus in the artery as a direct result of an activity associated with vascular access    
arteriovenous hemangioma a benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures    
arteritis an inflammatory process affecting an artery    
arthralgia pain in a joint    
arthritis an inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain    
arthrogryposis a rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth    
arthropathy any disorder of the joints    
arthropod vector an animal within the phylum arthropoda that transmits an infectious agent to a vertebrate animal    
artificial rupture of membranes perforation of fetal membranes to facilitate childbirth    
ascariasis an infection that is caused by the roundworm ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur    
ascending testicle a condition in which a previously descended testicle permanently moves out of the scrotum    
ascites the accumulation of fluid in the peritoneal cavity, which may be serous, hemorrhagic, or the result of tumor metastasis to the peritoneum    
aseptic meningitis inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen    
asperger syndrome a disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates asperger syndrome from autism    
aspergillosis an infection that is caused by aspergillus    
asphyxia a state of general hypoxia and hypercapnea, resulting in acidosis, which affects all tissues in the body    
aspiration accidental inhalation of a foreign material into the lungs    
aspiration pneumonitis inflammation of the lungs due to the inhalation of solid or liquid material    
assisted breech delivery the birth of a breech-presenting fetus with operative instrumentation or assistance    
assisted labor an intervention during the childbirth process to help the laboring mother deliver her baby    
asthma a chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways    
astrocytoma a tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma    
ataxia lack of coordination of muscle movements resulting in the impairment or inability to perform voluntary activities. Causes include peripheral nerve disorders, posterior column injuries, cerebral and cerebellar disorders, basal ganglia disorders, and thalamic disorders    
ataxic cerebral palsy the least common subtype of cerebral palsy, in which the individual displays hypotonia, a loss of motor coordination, and an intention tremor. Individuals with ataxic cerebral palsy walk very unsteadily, with a wide-based gait    
atelectasis the collapse of part or the entire lung due to airway obstruction, infection, tumor, or general anesthesia    
athetoid cerebral palsy a subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating    
athetosis slow, involuntary, and nonpurposeful writhing movements that usually affect the upper limbs    
atrial fibrillation a disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent p waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (cdisc)]]    
atrial flutter a disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple p waves typically appear in the inferior leads in a saw tooth-like pattern between the qrs complexes. (cdisc)]]    
atrial septal defect the presence of a defect (opening) in the septum that separates the two atria of the heart. It can be congenital or acquired    
atrial thrombus presence of a blood clot in the atria of the heart    
atrioventricular block, first degree a disorder characterized by an electrocardiographic finding of prolonged pr interval for a specific population. For adults one common threshold is a pr interval greater than 0.20 seconds    
atrioventricular block, second degree intermittent failure of atrial electrical impulse conduction to the ventricles    
atrioventricular block, third degree a disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ecg by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (cdisc)]]    
attending health care provider the individual assigned to be the primary care manager overseeing a patient's medical care during an episode of hospitalization    
attention deficit/hyperactivity disorder a disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.G. At home and at school). At least some of the symptoms must be present before the age of 7 years    
attenuated bacteria vaccine any vaccine created by reducing the virulence of bacteria but still keeping the bacteria viable (live). In the production of an attenuated vaccine, the infectious agent is altered so that it becomes harmless or less virulent. This is in contrast to those vaccines produced by "Killing" the pathogen (inactivated vaccine)    
attenuated live vaccine any vaccine created by reducing the virulence of the infectious agent but still keeping the agent viable (live). In the production of an attenuated vaccine, the infectious agent is altered so that it becomes harmless or less virulent. This is in contrast to those vaccines produced by killing the pathogen (inactivated vaccine)    
attenuated live virus vaccine live vaccines prepared from microorganisms which have undergone physical adaptation (e.G., by radiation or temperature conditioning) or serial passage in laboratory animal hosts or infected tissue/cell cultures, in order to produce avirulent mutant strains capable of inducing protective immunity. Live-attenuated vaccines are used when a cd8+ t cell (cellular cytotoxicity) response is desired    
atypical genitalia a rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia   ambiguous genitalia]]
atypical hemolytic uremic syndrome hemolytic uremic syndrome not associated with shiga toxin-producing enterobacteria    
audiometric test testing conducted utilizing a manual or microprocessor audiometer to test for hearing loss    
auditory hallucination perception of sound in the absence of a corresponding stimulus    
auditory neuropathy spectrum disorder a hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception    
augmentation of labor the stimulation of uterine contractions using pharmacologic methods or artificial rupture of membranes (arom) to increase their frequency and/or strength following the onset of spontaneous labor or contractions following spontaneous rupture of membranes. Does not apply if induction of labor is performed. (revitalize)]]    
autism a disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years    
autism spectrum disorder a spectrum of developmental disorders that includes autism, asperger syndrome, and rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors    
autoimmune adrenalitis diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands    
autoimmune cytopenia cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets    
autoimmune disease a disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.G., systemic lupus erythematosus), or organ specific, (e.G., thyroiditis)    
autoimmune encephalitis inflammation of the brain secondary to an immune response triggered by the body itself    
autoimmune hemolytic anemia an acquired anemia caused by destruction of the red blood cells by autoantibodies. Causes include autoimmune disorders, lymphoproliferative disorders, and infections    
autoimmune hypophysitis an autoimmune condition affecting the pituitary gland, characterized by lymphocytic infiltration, commonly presenting with pituitary hormone deficiencies    
autoimmune polyglandular syndrome type 1 autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the aire gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous aire mutation(s) typically result in a narrower disease spectrum    
autoimmune polyglandular syndrome type 2 autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis    
autoimmune polyglandular syndrome(s) a group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues    
autoinflammatory syndrome a group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive t cells more characteristic of autoimmune disease    
autologous taken from an individual's own tissues, cells, or dna    
autonomous ovarian follicular cyst a cyst arising from an ovarian follicle that produces hormones independent of gonadotropin stimulation    
autosomal dominant hypoparathyroidism hypoparathyroidism associated with heterozygous mutation(s) in the pth gene, which encodes parathyroid hormone, or in the gcm2 gene, which encodes chorion-specific transcription factor gcmb    
autosomal dominant hypophosphatemic rickets an autosomal dominant renal phosphate wasting disorder that results in rickets    
autosomal dominant neurohypophyseal diabetes insipidus an autosomal dominant form of diabetes insipidus caused by mutation(s) in the avp gene encoding arginine vasopressin    
autosomal dominant osteopetrosis an autosomal dominant form of osteopetrosis due to mutation(s) in the clcn7 gene, encoding h(+)/cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a clcn7 mutation have a normal skeletal phenotype   benign osteopetrosis]]
autosomal dominant polycystic kidney disease polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts    
autosomal dominant polycystic kidney disease type 2 autosomal dominant polycystic kidney disease caused by a mutation in pkd2    
autosomal dominant polycystic kidney disease type I autosomal dominant polycystic kidney disease caused by a mutation in pkd1    
autosomal recessive hypoparathyroidism hypoparathyroidism associated with homozygous mutation(s) in the pth gene, which encodes parathyroid hormone, or in the gcm2 gene, which encodes chorion-specific transcription factor gcmb    
autosomal recessive hypophosphatemic rickets an autosomal recessive renal phosphate wasting disorder that results in rickets    
autosomal recessive infantile hypercalcemia a condition caused by autosomal recessive loss-of-function mutation(s) in the cyp24a1 or slc34a1 gene, encoding mitochondrial 1,25-dihydroxyvitamin d(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2a, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis   idiopathic infantile hypercalcemia]]
autosomal recessive osteopetrosis an autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration    
autosomal recessive polycystic kidney disease polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6    
av fistula aneurysm a bulge in a weakened vessel wall segment of an arteriovenous fistula    
av fistula maturation failure inadequate development of an arteriovenous fistula within three months of creation    
av fistula stenosis narrowing of the lumen of an arteriovenous fistula    
av fistula thrombosis partial or complete occlusion of the lumen within an arteriovenous fistula by a thrombus    
av graft aneurysm a bulge in a weakened wall segment of an arteriovenous graft    
av graft stenosis narrowing of the lumen of an arteriovenous graft    
av graft thrombosis partial or complete occlusion of the lumen of an arteriovenous graft by a thrombus    
avascular necrosis tissue death resulting from an interruption to the blood supply    
avascular placental villi focus of two or more placental terminal villi showing a total loss of villous capillaries and bland hyaline fibrosis of the villous stroma. Stromal karyorrhexis may or may not be evident    
b acute lymphoblastic leukemia the most frequent type of acute lymphoblastic leukemia.  approximately 75% of cases occur in children under six years of age.  this is a good prognosis leukemia.  in the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%.  approximately 80% of children appear to be cured.  in the adult age group the complete remission rate is 60-85%.  (who, 2001)]]    
babesiosis a parasitic infection caused by babesia. It is transmitted by ticks and infects the red blood cells. Signs and symptoms include fever, fatigue and hemolytic anemia    
bacillary angiomatosis a condition that is caused by infection with bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals    
bacillary peliosis an infection that is caused by bartonella henselae, which occurs primarily in immunocompromised persons; it is characterized by blood-filled cysts in the liver and spleen    
bacillus calmette-guérin vaccine a vaccine containing bacillus calmette-guerin (bcg), an attenuated strain of mycobacterium bovis, with non-specific immunoadjuvant and immunotherapeutic activities. Although the mechanism of its anti-tumor activity is unclear, immunization with bcg vaccine likely activates a th1 cytokine response that includes the induction of interferon. Vaccination with bcg vaccine may be immunoprotective against infection with mycobacterium tuberculosis    
back arching a convex curvature of the spine that occurs when an individual thrusts forward the shoulders and pulls back the abdomen    
back pain painful sensation in the back region    
bacteremia a laboratory test result that indicates the presence of bacteria in the blood    
bacteria unicellular, prokaryotic organisms that reproduce by cell division and usually have cell walls; can be shaped like spheres, rods or spirals and can be found in virtually any environment    
bacterial arthritis the inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint    
bacterial conjunctivitis inflammation of the conjunctiva caused by a variety of bacterial agents    
bacterial endocarditis endocarditis that is caused by an infection with a bacterial agent    
bacterial gastroenteritis gastroenteritis resulting from a bacterial infection    
bacterial infection an acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections    
bacterial meningitis inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection    
bacterial myocarditis myocarditis that is caused by an infection with a bacterial agent    
bacterial pericarditis pericarditis that is caused by an infection with a bacterial agent    
bacterial peritonitis peritonitis that is caused by a bacterial infection    
bacterial vaginosis infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection    
balantidiasis a parasitic protozoal infection caused by balantidium coli that involves the large intestinal mucosa. Signs and symptoms include nausea, vomiting, diarrhea, abdominal pain, fever, headache and weight loss    
band keratopathy the deposition of calcium on the cornea, resulting in pain and decreased visual acuity    
barakat syndrome a condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in gata3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys    
bardet-biedl syndrome an autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called bbs genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills    
barlow's maneuver useful in assessing for developmental dysplasia of the hip, this test is performed when the thigh is pushed posteriorly and the hip is adducted. Should the hip become dislocated by this movement, the result is considered positive    
barth syndrome a rare x-linked syndrome caused by mutations in taz1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria    
bartonellosis a gram-negative bacterial infection caused by bacteria of the genus bartonella. It is transmitted by ticks, flies and mosquitoes. Signs and symptoms include fever, headache, muscle pain, enlargement of the lymph nodes and anemia    
bartter syndrome a rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Patients have high levels of plasma renin concentration which is not associated with hypertension    
basal decidual karyorrhexis collections of degenerated nuclear fragments that are associated with tissue injury during placental abruption    
basal decidual necrosis acellular areas of the basal plate    
basal myofibers a small focus of the myometrium that peels away along with the placenta and is delivered as part of the basal plate    
baseline fetal heart rate the number of fetal cardiac beats per minute, considered as the reference value against which measurements in the future can be made    
basilar rales abnormal breath sounds (crackles) heard on auscultation only in the bases of the lungs. They indicate inflammation, fluid, or infection in the air sacs of the lung    
basilar-type migraine a migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem    
basophilia abnormally high level of basophils in the blood    
basophilopenia abnormally low level of basophils in the blood    
bath ankylosing spondylitis disease activity index a clinical index used to assess the activity of ankylosing spondylitis that has been validated in adults    
bayley scale of infant development I the first edition of a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age    
bayley scale of infant development ii the second edition of the bayley scales of infant development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age    
bayley scale of infant development iii the third edition of the bayley scales of infant development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age    
baylisascariasis an infection that is caused by the raccoon nematode baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses    
beau's lines linear transverse/horizontal groove of one or more nail plates that migrate distally from the proximal nail fold with nail growth, usually secondary to illness, trauma or malnutrition    
beckwith-wiedemann syndrome a genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, wilms tumor, rhabdomyosarcoma) and adrenal cortex carcinomas    
bedwetting urination during sleep    
behavior the actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli    
behavior during childhood observed actions from individuals between 2 and 18 years of age    
behavioral assessment assessment of individual responses to age appropriate stimuli    
behavioral development the evolution of actions, including reactions and responses to the environment, over an individual's lifespan    
behavioral disorder a specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment    
behavioral insomnia of childhood a childhood disorder characterized by difficulty initiating and maintaining sleep due to negative sleep associations, refusal to go to bed, and/or repeated attempts to delay bedtime    
behavioral rating scale a range of values designed to quantify the qualitative responses of an individual to a set of challenges    
behcet syndrome a rare chronic inflammatory disorder of unknown etiology. It is characterized by the development of ulcers in the mouth and genital region and uveitis. Other signs and symptoms include arthritis, deep vein thrombosis and superficial thrombophlebitis   morbus behçet's syndrome|silk road disease]]
benign brain tumor a primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors    
benign congenital hypotonia mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.G., cerebral palsy or muscular dystrophy)    
benign familial convulsions a group of genetically-determined conditions characterized by a wide spectrum of seizure types occurring in otherwise healthy newborn infants that start during the first week of life and spontaneously disappear between the first and twelfth months of life    
benign rolandic epilepsy a neurological disorder of childhood characterized by partial seizures consisting of twitching, numbness, or tingling of the face or tongue that often progress to secondary generalized seizures    
bernard-soulier syndrome a rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the ib/ix/v complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets    
beta thalassemia an autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features    
beta thalassemia plus structural variants a heterozygous state in which a person has a mutation in a beta globin allele causing beta thalassemia, together with other structural variants in the other allele    
beta-ketothiolase deficiency a rare autosomal recessive inherited disorder caused by mutations in the acat1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-coa thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma    
bilateral anophthalmos a rare congenital abnormality characterized by the complete absence of ocular tissue in both orbits    
bilateral cataracts partial or complete opacity of the crystalline lens of both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (sternberg diagnostic surgical pathology, 3rd ed.)]]    
bilateral microphthalmos a congenital abnormality characterized by the presence of two abnormally small eye globes    
bilateral optic nerve hypoplasia a congenital abnormality characterized by the underdevelopment of both optic nerves    
bilateral renal agenesis a congenital abnormality characterized by the absence of both kidneys    
bilateral renal dysplasia a finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation    
biliary atresia a congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts    
biliary duct stent a hollow tube that is advanced into an obstructed bile duct to allow the flow of bile into the bowel    
bilobate placenta a variant placenta in which the chorionic tissue is partitioned into two distinct discs, without consistent relationship to umbilical cord insertion    
binge eating recurrent episodes of over-eating    
binocular diplopia perception of two images secondary to misalignment of the eyes    
bio-inactive somatotropin bio-inactive somatotropin is encoded by mutated forms of the human gh1 gene. This protein lacks biological activity and is associated with a phenotype of functional growth hormone deficiency    
biologic biotechnology-derived pharmaceutical agents made from living organisms or their products. Includes recombinant proteins, monoclonal antibodies, and nucleic acids    
biologic disease-modifying antirheumatic drug a biologic used to alter the progression of autoimmune disease    
biotinidase deficiency a genetic disorder caused by mutations in the btd gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia    
bipolar disorder a disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression    
birmingham vasculitis activity score a set of criteria used to determine the activity of vasculitis    
birth complication the development of a problematic medical situation that occurs concurrently with the birth of a neonate    
birth date the calendar date on which a person was born    
birth facility the facility which provides a setting with provisions for monitoring and delivering babies    
birth head circumference the measurement around a neonate's head at birth    
birth injury an injury sustained to a neonate during the birthing process    
birth time the hour, minute, and/or second at which birth occurs    
birth weight the first weight of a newborn obtained after birth    
bisphosphoglycerate mutase deficiency a rare, autosomal recessive, inherited disorder caused by mutation of the bpgm gene. It is characterized by hemolytic anemia and splenomegaly    
bisphosphonate - induced nephropathy kidney damage resulting from exposure to bisphosphonates    
bladder disorder a non-neoplastic or neoplastic disorder affecting the urinary bladder. A representative example of non-neoplastic bladder disorder is bacterial bladder infection. A representative example of neoplastic bladder disorder is bladder carcinoma    
bladder exstrophy a congenital anomaly that involves the protrusion of the exstrophied bladder through the abdominal wall. It is an anomaly that exists along the exstrophy- epispadias complex, which frequently includes urethra exstrophy, separation of the pubic symphysis, external rotation of the pelvic bones, and opening of the puborectal sling and sphincters    
bladder fistula an abnormal communication between the urinary bladder and another organ or anatomic site    
bladder outlet obstruction blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra    
bladder perforation a rupture in the bladder wall due to traumatic or pathologic processes    
bladder sphincter dysfunction non-coordinated, reflexive contraction of the bladder and sphincter relaxation    
blanching transient pallor of the skin caused by reduced blood flow to the affected region    
blast cells present a laboratory test result indicating the presence of blast cells in a blood sample    
blast crisis sudden increase of the number of blasts in the bone marrow and/or peripheral blood in a patient with a history of chronic leukemia    
blastomycosis a fungal infection caused by inhalation of spores of blastomyces dermatitidis. It presents with flu-like symptoms including fever, chills, cough, pleuritic chest pain and myalgias. It may lead to a chronic granulomatous pulmonary infection and disseminate to other anatomic sites including skin, nervous system and bones    
blau syndrome an autoinflammatory disease caused by a nod2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis    
bleeding disorder a coagulation disorder characterized by a tendency for excessive bleeding    
blepharitis inflammation of the eyelids near the eyelashes    
blepharospasm involuntary twitching of the eyelid    
blindness the lack of vision. It is caused by neurological or physiological factors    
blister an intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid    
blomstrand type chondrodysplasia an autosomal recessive lethal condition caused by inactivating mutation(s) in the pth1r gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation    
blood glucose measurement a quantitative measurement for assessing the amount of glucose present in a blood sample    
blood in stool a finding indicating the presence of blood in stool. It is the result of gastrointestinal hemorrhage and it may be easily seen in stool or may be identified microscopically    
blood pressure the pressure of the circulating blood against the walls of the blood vessels    
blood product any natural or synthetic composition that replicates the structure or function of a native component of blood    
blood transfusion the injection of whole blood or a blood component directly into the bloodstream    
blood urea nitrogen increased laboratory results demonstrating an increase in the concentration of urea nitrogen in a blood sample    
bloody discharge the leaking of serosanguinous fluids from an orifice or wound    
blount's disease a growth disorder of the tibia in children and adolescents that presents as progressive bowing of one or both legs    
blunted affect restricted range of emotional expressiveness    
blurred vision blurred vision is the loss of visual acuity (sharpness of vision) resulting in a loss of ability to see small details. (from medlineplus medical encyclopedia)]]    
body fluid or substance material produced by living organisms; it can be a necessary constituent of, or product of an organismal process    
body part any part of an organism    
body substance discharge the leakage of a substance from an orifice or wound    
body weight the weight of a subject    
bone cancer a primary or metastatic malignant neoplasm affecting the bone or articular cartilage    
bone marrow and extramedullary involvement a finding indicating the involvement of the bone marrow and other anatomic sites, which may include the peripheral blood, lymph nodes, and/or extranodal sites, by a hematopoietic neoplasm    
bone marrow involvement infiltration of the bone marrow by a malignant neoplasm    
bone marrow neoplasm neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.G. Myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.G. Metastatic carcinomas to the bone marrow)    
bone marrow transplantation a procedure to replace diseased or pathologic bone marrow with transplanted healthy bone marrow cells    
bordetella pertussis a species of bacteria within the phylum proteobacteria consisting of gram-negative aerobic coccobacillus that are the causative agent of pertussis    
bottle feeding provision of liquid nutrition via a closed container system with a rubber like mouthpiece resembling a nipple    
botulism a serious bacterial infection caused by botulinum toxin which is produced by clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure    
bowel obstruction blockage of the normal flow of the intestinal contents within the bowel    
brachial plexopathy a brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand    
brachial plexus injury damage to the nerves in the brachial plexus network. These nerves originate in the spinal column and innervate the shoulder, arm and hand. Often, damage is sustained from overstretching or motor vehicle accidents    
brachial plexus palsy related to birth birth injury to the brachial plexus. It results in paralysis of the muscles of the shoulder, arm, and hand. It manifests as lack of mobility in the arm, usually in the first week of life. In the majority of cases there is spontaneous recovery    
bradycardia an abnormally slow heart rate. Thresholds for different age, gender, and patient populations exist    
bradykinesia slow movement    
bradyphagia abnormally slow eating    
brain death irreversible absence of cortical and brain stem functioning    
brain development abnormality a group of congenital or acquired disorders that affect the normal development of the brain    
brain disorder a non-neoplastic or neoplastic disorder that affects the brain    
brain tumor a benign or malignant neoplasm that arises from or metastasizes to the brain    
brain-derived neurotropic factor deficiency presumed deficiency of brain-derived neurotropic factor (bdnf), associated with loss-of-function mutation(s) in the bdnf gene    
branch pulmonary artery stenosis narrowing of the lumen of the right or left pulmonary artery branch    
branchio-oto-renal syndrome an autosomal dominant inherited syndrome caused by mutations in the eya1, six1, and six5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities    
braxton-hicks contraction irregular infrequent uterine contractions typically characteristic of the third trimester of pregnancy that do not result in cervical change or labor    
brazelton neonatal behavorial assessment scale an assessment tool created by dr. T. Berry brazelton and his colleagues to assist caregivers in determining developmental strengths and weaknesses in infants from birth to the age of two months    
breast cancer a carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla    
breast engorgement in newborn transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen    
breast feeding the nursing of an infant at the mother's breast    
breast milk milk produced by female mammals for the purpose of feeding their young    
breast pain painful sensation in the breast region    
breastfeeding jaundice yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn due to insufficient intake of maternally-expressed milk. It commonly appears four to seven days after birth    
breastmilk jaundice jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes    
breath holding episodic apnea, which is more common in young children and usually resolves by age six    
breathing effort score a component of the apgar score, it is the numerical value assigned to the assessment of breathing effort by a neonate. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry    
breech extraction the delivery of a breech-presenting fetus with that is manually pulled through the birth canal    
breech presentation a fetal presentation in which the baby descends into the birth canal with hips, buttocks or its foot first during delivery    
british isles lupus assessment group index an organ-specific assessment intended as a clinical decision tool. It evaluates specific manifestations over the previous four weeks in a total of eight organs systems, nine in the revised index: constitutional, mucocutaneous, neuropsychiatric, musculoskeletal, cardiorespiratory, gastrointestinal, ophthalmic, renal, and hematological. Activity in each organ system is scored from most active disease to no previous activity    
bronchiolitis inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath    
bronchitis an acute or chronic inflammatory process affecting the bronchi    
bronchomalacia a congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing    
bronchopulmonary dysplasia chronic lung disease requiring treatment with oxygen for at least 28 days and with a spectrum of severity from mild to severe, that predominantly affects premature infants. While the radiologic pattern is typical in the closer to term patient, the pattern in the small preterm infant is very non-discrete and variable    
bronchopulmonary sequestration a rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation    
bronchospasm sudden contraction of the smooth muscles of the bronchial wall    
brow presentation a fetal presentation during delivery in which the brow of the fetus is first to descend into the birth canal    
brucellosis a gram negative bacterial infection caused by bacteria of the genus brucella. Humans are infected by ingesting unpasteurized milk or meat from infected animals. Signs and symptoms include fevers, sweating, weakness, headache, muscle pain, arthritis and anemia    
bruise injury of the soft tissues or bone without breaking the skin that is characterized by blood leakage into the surrounding area    
bruxism excessive clenching of the jaw and grinding of the teeth    
bulimia nervosa a disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image    
bulla a large (greater than 5-10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid    
bullous systemic lupus erythematosus a manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption    
burn a traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation    
burning mouth syndrome a condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth    
butyryl-coa dehydrogenase deficiency a rare autosomal recessive inherited disorder caused by mutations in the acadsb gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-coa dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma    
c-reactive protein c-reactive protein (224 aa, ~25 kda) is encoded by the human crp gene. This protein is cleaved during biological activation and is associated with host defense mechanisms and inflammatory responses    
c1q deficiency lack of production of functional c1q proteins, due to a genetic defect. Virtually 100% of patients with a c1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with streptococcus pneumoniae    
c1r/c1s deficiency lack of production of either functional c1r or c1s protein, due to a genetic defect. Approximately 60% of patients with a c1r/c1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with streptococcus pneumoniae    
c2 deficiency lack of production of functional c2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of c2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with streptococcus pneumoniae    
c3 deficiency a rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, c3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If c3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum c3 and its major cleavage product, c3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of c3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease    
c3 glomerulonephritis glomerulonephritis characterized by c3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease    
c4 deficiency lack of production of functional c4 protein, due to a genetic defect requiring homozygous loss of both the c4a and c4b genetic paralogs. Approximately 75% of patients with a c4 deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with streptococcus pneumoniae    
cacosmia a hallucination of an unpleasant odor    
cafe au lait spot a light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and mccune-albright syndrome    
calcineurin inhibitor - induced nephropathy kidney damage resulting from exposure to calcineurin inhibitors    
calcineurin nephrotoxicity kidney injury caused by calcineurin inhibitor immunosuppressive therapy which may lead to diminished kidney function    
calciphylaxis a rare syndrome characterized by vascular calcification and skin necrosis. It seen in patients with end stage renal disease    
calcium channel blocker a pharmaceutical agent that inhibits the movement of calcium across through calcium channels in the cell membrane, preventing or decreasing the amount of calcium able to enter the cell. These drugs are used for their chronotropic, antihypertensive and vasodilatory effects    
calcium deficiency rickets rickets due to low calcium concentrations, the cause of which can be nutritional or genetic    
calcium oxalate urolithiasis urolithiasis in which the composition of the stones is predominantly calcium oxalate    
calcium phosphate urolithiasis urolithiasis in which the composition of the stones is predominantly calcium phosphate    
calyceal diverticulum an out-pouching of the calyx into the renal parenchyma    
campomelic dysplasia a genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects    
canavan disease a disorder that belongs in the group of leukodystrophies. It is caused by mutations in the aspa gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head    
cancer a tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), hodgkin and non-hodgkin lymphomas, leukemias, melanomas, and sarcomas    
candida diaper dermatitis an inflammatory skin condition in the diaper area superimposed with candida infection, characterized by a bright red rash with a sharply demarcated edge and satellite lesions. Skin folds are often involved    
candidiasis infection with the organism candida    
caput succedaneum a diffuse swelling of the scalp in a newborn, usually caused by the trauma of the scalp pushing through a narrowed cervix during birth. The swelling may extend across the midline of the scalp and may exhibit discoloration or bruising    
carbamoyl phosphate synthetase deficiency a congenital disorder caused by mutations in the cps1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability    
carbohydrate-deficient glycoprotein syndrome an genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism    
cardiac arrest the sudden cessation of cardiac activity in an individual who becomes unresponsive, without normal breathing and no signs of circulation. Cardiac arrest may be reversed by cpr, and/or defibrillation, cardioversion or cardiac pacing    
cardiac compression during initial resuscitation an emergency measure on newborns, which requires assistance to begin breathing at birth. Initial resuscitation includes administration of positive-pressure ventilation and chest compressions to empty the ventricles of the heart in an effort to circulate the blood, and also to stimulate the heart so that it will resume its pumping action    
cardiac conduction disorder a disorder affecting the conduction system that sends electrical signals in the myocardium    
cardiac monitoring the act of observing and recording the heart rate for determining the baseline values and any variations or other abnormal tracings    
cardiac neoplasm a benign or malignant neoplasm that affects the heart and/or the pericardium. Representative examples include atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma    
cardiac perforation the presence of an acquired hole in the heart. Cardiac perforation may or may not be symptomatic and may or may not be self sealing. (acc)]]    
cardiac resuscitation measures performed to restore cardiac function    
cardiac tamponade acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion    
cardiofaciocutaneous syndrome a rare genetic syndrome most often caused by braf gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay    
cardiomyopathy a disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive    
cardiopulmonary arrest cessation of breathing and/or cardiac function    
cardiorenal syndrome a disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ    
cardiovascular disorder a non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma    
cardiovascular system finding symptoms, physical examination results, and/or laboratory test results related to the cardiovascular system    
carney complex an autosomal dominant disorder most often caused by mutations in the prkar1a gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and melanotic schwannomas    
carnitine palmitoyltransferase I deficiency a rare autosomal recessive inherited disorder caused by mutations in the cpt1a gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1a which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma    
carotenoderma orange or yellow discoloration of the skin caused by excessive deposits of carotene    
carrión disease an infection that is caused by bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise    
cat bite a wound received from the teeth of a cat    
cat-scratch disease a bacterial infection caused by bartonella henselae. It is transmitted to humans from a scratch, bite, or lick from a cat. A blister or a bump appears on the skin following the scratch or bite. Subsequently, there is lymph node enlargement around the scratch or bite site. The lymph node enlargement most often occurs under the arm or the neck. Some patients experience fever, fatigue, headaches or sore throat as well    
cataract partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (sternberg diagnostic surgical pathology, 3rd ed.)]]    
category I tracing normal fetal heart pattern. Strongly predictive of normal acid-base status at time of observation. Characterized by baseline fetal heart rate 110 to 160 beats per minute, moderate baseline variability, absent late or variable decelerations, absent or present early decelerations, and absent or present accelerations    
category ii tracing indeterminate fetal heart rate pattern. Not predictive of abnormal acid-base status at time of observation but insufficient to classify pattern as category I or iii. Example patterns include: minimal or marked variability, absent variability without recurrent decelerations, absence of induced accelerations after fetal stimulation, recurrent variable decelerations with minimal or moderate variability, prolonged decelerations, recurrent late decelerations with moderate variability and variable decelerations with slow return to baseline, overshoots or shoulders    
category iii tracing abnormal fetal heart rate pattern. Predictive of abnormal acid-base status at time of observation. Patterns include sinusoidal pattern or absent fetal heart rate variability with any of the following: recurrent late decelerations, recurrent variable decelerations, or bradycardia    
catheter-related inflammation inflammation associated with the use of a catheter    
cause of death the circumstance or condition that results in the death of a living being    
cecoureterocele a ureterocele in which the orifice is located in the bladder, with the ureterocele pouch extending submucosally into the urethra    
cellular congenital mesoblastic nephroma a congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity.  necrotic changes are commonly present    
cellular telephone number the sequence of numbers or characters, that when dialed, connects to a particular cellular telephone    
cellulitis inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area    
centimeter a basic unit of length in the former cgs version of metric system, equal to one hundredth of a meter or approximately 0.393 700 787 inch    
central adrenal insufficiency a hormonal disorder that occurs when lack of corticotropin-releasing hormone (crh) secretion from the hypothalamus or adrenocorticotropic hormone (acth) secretion from the pituitary is responsible for hypofunction of the adrenal cortex    
central apnea cessation of air flow due to abnormal central nervous system control    
central auditory processing disorder a disorder characterized by impairment of the auditory processing, resulting in deficiencies in the recognition and interpretation of sounds by the brain. Causes include brain maturation delays and brain traumas or tumors    
central diabetes insipidus diabetes insipidus caused by decreased secretion of antidiuretic hormone from the pituitary gland    
central hearing loss hearing loss resulting from disorders of the central nervous system auditory pathways    
central hyperthyroidism overproduction of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis    
central hypothyroidism abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis   secondary hypothyroidism]]
central line complication a problem with a central venous access catheter or site of insertion    
central line infection an infectious process related to a central venous catheter    
central nervous system cyst a congenital or acquired cyst that is present in the central nervous system    
central nervous system disorder a non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord    
central nervous system infectious disease an infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis    
central nervous system involvement a finding indicating the involvement of the central nervous system by a malignant neoplasm    
central nervous system lupus inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (sle); it is associated with neurological and/or psychiatric features    
central nervous system signs and symptoms signs and symptoms associated with disturbances within the central nervous system, which includes the brain, spinal cord and meninges    
central obesity obesity in which excess fat is accumulated primarily in the area of the abdomen    
central retinal artery occlusion blockage of the central retinal artery    
central retinal venous occlusion blockage of the central retinal vein    
central sleep apnea the periodic cessation of breathing while asleep that occurs secondary to the decreased responsiveness of the respiratory center of the brain to carbon dioxide, resulting in alternating cycles of apnea and hyperpnea    
central venous access catheter a venous catheter positioned with the tip in the proximal third of the superior vena cava, the right atrium, or the inferior vena cava    
central visual field defect reduced or abnormal sight in the central visual field    
cephalohematoma a subperiosteal hemorrhage limited to the surface of one cranial bone, a usually benign condition seen in the newborn as a result of bone trauma    
cercarial dermatitis a pruritic rash that occurs as consequence of cercariae penetration of the skin after aquatic exposure to animal (usually avian) schistosomes, often in countries non-endemic to human schistosomiasis. The condition is non-invasive and responsive to symptomatic treatment    
cerebellar mutism a syndrome, usually presenting after midline posterior fossa tumor resection, which is characterized by abnormalities of speech, behavioral or affective disturbances, and diffuse cerebellar dysfunction    
cerebral arterial aneurysm a balloon type pouch or bulge in the wall of a cerebral artery    
cerebral arteriovenous malformation an abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke    
cerebral atrophy atrophy of the cerebrum caused by focal or generalized neuronal loss    
cerebral edema swelling due to an excessive accumulation of fluid in the brain    
cerebral hemorrhage bleeding within the cerebrum    
cerebral hemorrhage related to birth intracranial bleeding in the tissue of the cerebrum of a newborn infant occurring during labor and/or delivery    
cerebral malaria a sequestration of plasmodium falciparum in the brain, which can cause coma and/or seizures    
cerebral palsy a group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain    
cerebral venous aneurysm a balloon type pouch or bulge in the wall of a cerebral vein    
cerebral visual impairment visual impairment due to central nervous system dysfunction    
cerebrospinal fluid leakage the loss of cerebrospinal fluid into the surrounding tissues    
cerebrovascular accident a sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event    
cerebrovascular disease a disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction    
cervical carcinoma a carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma    
cervical insufficiency a clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis    
cervical intraepithelial neoplasia squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade    
cervical meningocele a congenital abnormality in the cervical region of the spine in which the meninges protrude through a defect in the spinal column    
cervical myelocele herniation of spinal cord tissue and meninges through a defect in the cervical region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface    
cervical myelomeningocele a congenital abnormality in the cervical region of the spine in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface    
cervicitis an acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge    
cesarean birth surgical delivery of one or more intrauterine fetuses though an abdominal incision    
cesarean hysterectomy the removal of the uterus, after the delivery of the fetus, in the concurrent surgical session    
chagas disease a parasitic infection caused by trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias    
chalazion an eyelid cyst caused by the blockage of a meibomian gland    
characteristic the distinguishing qualities or prominent aspect of a person, object, action, process, or substance    
charge syndrome a rare autosomal dominant syndrome usually caused by mutations in the chd7 gene. The term charge is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities    
chediak-higashi syndrome a rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-higashi syndrome (chs) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (nk) cell function. Chs may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. Chs occurs in mink, cattle, and mice, as well as man    
cheilitis an inflammatory process affecting the lip    
cheiromegaly abnormal enlargement of one or both hands, along with hyperhydrosis    
chemical burn of eye injury to the eye secondary to a chemical substance    
chemical conjunctivitis inflammation of the conjunctiva in a newborn due to chemical irritation which was acquired postnatally from iatrogenic causes    
chemical peritonitis a non-infectious inflammation of the peritoneum    
chemotherapeutic drug - induced nephropathy kidney damage resulting from exposure to chemotherapeutic drugs    
chest pain pain in the chest    
chest tube a hollow tube that is inserted into the pleural space through a surgical incision in the chest wall    
chikungunya an infection that is caused by the chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia    
child a person who is not yet an adult. The specific cut-off age will vary by purpose    
child health questionnaire a collection of general quality of life surveys that measures physical and psychosocial concepts in children    
childhood a time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence    
childhood acute erythroid leukemia an acute erythroid leukemia occurring in children    
childhood acute lymphoblastic leukemia an acute lymphoblastic leukemia occurring during childhood.  the majority of cases are b-acute lymphoblastic leukemias. Approximately 15% of the cases are t-acute lymphoblastic leukemias    
childhood acute megakaryoblastic leukemia an acute megakaryoblastic leukemia occurring in children    
childhood acute monoblastic and monocytic leukemia an acute monoblastic and monocytic leukemia occurring in children    
childhood acute monoblastic leukemia an acute monoblastic leukemia occurring in children    
childhood acute monocytic leukemia an acute monocytic leukemia occurring in children    
childhood acute myeloid leukemia acute myeloid leukemia occurring in childhood    
childhood acute myeloid leukemia with abnormalities of chromosome 5q a rare acute myeloid leukemia that occurs in childhood and is characterized primarily by deletions of 5q    
childhood acute myeloid leukemia with abnormalities of chromosome 7 a rare acute myeloid leukemia that occurs in childhood and is characterized by deletion of chromosome 7    
childhood acute myeloid leukemia with maturation an acute myeloid leukemia with maturation occurring in children    
childhood acute myeloid leukemia with minimal differentiation an acute myeloid leukemia with minimal differentiation occurring in children    
childhood acute myeloid leukemia with nup98 rearrangement an acute myeloid leukemia that occurs in childhood and is characterized by the rearrangement of the nup98 gene    
childhood acute myeloid leukemia without maturation an acute myeloid leukemia without maturation occurring in children    
childhood acute myeloid leukemia, not otherwise specified acute myeloid leukemias that occur in childhood and do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related.  this category includes entities classified according to the french-american-british classification scheme    
childhood acute myelomonocytic leukemia an acute myelomonocytic leukemia occurring in children    
childhood acute promyelocytic leukemia with t(15;17)(q22;q12); pml-rara an acute promyelocytic leukemia with pml-rara fusion occurring in children    
childhood alveolar rhabdomyosarcoma an aggressive malignant mesenchymal neoplasm occurring in children.  it is characterized by the presence of round cells with myoblastic differentiation, and a fibrovascular stroma resembling an alveolar growth pattern    
childhood alveolar soft part sarcoma an alveolar soft part sarcoma occurring in children.  the most common site of involvement is the head and neck, particularly the orbit and tongue    
childhood anaplastic astrocytoma an anaplastic astrocytoma that arises from the central nervous system and occurs during childhood    
childhood anaplastic ependymoma an anaplastic ependymoma that occurs during childhood    
childhood anaplastic large cell lymphoma an anaplastic large cell lymphoma that occurs during childhood    
childhood anaplastic oligoastrocytoma an anaplastic oligoastrocytoma that occurs during childhood    
childhood anaplastic oligodendroglioma an anaplastic oligodendroglioma that arises from the central nervous system and occurs during childhood    
childhood angiosarcoma an angiosarcoma occurring in childhood    
childhood astrocytic tumor an astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location    
childhood astrocytoma an astrocytoma that occurs during childhood    
childhood atypical choroid plexus papilloma an atypical choroid plexus papilloma that occurs during childhood    
childhood atypical teratoid/rhabdoid tumor an atypical teratoid/rhabdoid tumor occurring in children    
childhood b acute lymphoblastic leukemia an acute b-lymphoblastic leukemia occurring in children    
childhood b acute lymphoblastic leukemia with t(9;22)(q34;q11.2); bcr-abl1 a b-cell acute leukemia occurring in childhood. It is characterized by the presence of lymphoblasts that carry a translocation between the bcr gene on chromosome 22 and the abl1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome    
childhood b lymphoblastic lymphoma a b lymphoblastic lymphoma that occurs during childhood    
childhood botryoid-type embryonal rhabdomyosarcoma a morphologic variant of embryonal rhabdomyosarcoma occurring in children.  the tumor arises from organs with a mucosal epithelial surface.  it is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma    
childhood brain neoplasm a benign or malignant, primary or metastatic neoplasm of the brain occurring in children    
childhood brain stem astrocytoma an astrocytoma that arises from the brain stem and occurs during childhood    
childhood brain stem glioma an abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location.  it presents most commonly in the first two decades of life    
childhood brain stem gliosarcoma a gliosarcoma that arises from the brain stem and occurs during childhood    
childhood brain stem mixed glioma a mixed glioma that arises from the brain stem and occurs during childhood    
childhood brain stem tumor a neoplasm that affects the brain stem and occurs during childhood    
childhood breast carcinoma a rare breast carcinoma that occurs during childhood    
childhood burkitt leukemia the leukemic counterpart of burkitt lymphoma occurring in children.  the characteristic burkitt cells are seen in the bone marrow and the peripheral blood.  this is an aggressive leukemia    
childhood burkitt lymphoma a burkitt lymphoma occurring in children    
childhood carcinoid tumor a rare carcinoid tumor that occurs during childhood    
childhood central nervous system choriocarcinoma a choriocarcinoma that arises from the central nervous system and occurs during childhood    
childhood central nervous system embryonal carcinoma an embryonal carcinoma that arises from the central nervous system and occurs during childhood    
childhood central nervous system embryonal neoplasm a central nervous system embryonal neoplasm that occurs during childhood    
childhood central nervous system germ cell tumor a germ cell tumor of the central nervous system occurring in children    
childhood central nervous system germinoma a germinoma arising from the central nervous system during childhood    
childhood central nervous system immature teratoma an immature teratoma that arises from the central nervous system and occurs during childhood    
childhood central nervous system mature teratoma a mature teratoma that arises from the central nervous system during childhood    
childhood central nervous system mixed germ cell tumor a mixed germ cell tumor that arises from the central nervous system and occurs during childhood    
childhood central nervous system neoplasm a benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in children.  representative examples include posterior fossa astrocytoma, optic pathway glioma, medulloblastoma, ependymoma, and craniopharyngioma    
childhood central nervous system primitive neuroectodermal tumor a central nervous system embryonal tumor, not otherwise specified that occurs in childhood    
childhood central nervous system teratoma a mature or immature teratoma affecting the central nervous system and occurring in children    
childhood central nervous system yolk sac tumor a yolk sac tumor that arises from the central nervous system and occurs during childhood    
childhood cerebellar tumor a neoplasm that affects the cerebellum and occurs during childhood    
childhood cerebral ganglioneuroblastoma a cerebral ganglioneuroblastoma that occurs during childhood    
childhood cerebral neuroblastoma a neuroblastoma that arises from the cerebral hemispheres and occurs during childhood    
childhood choriocarcinoma a choriocarcinoma occurring in children    
childhood choroid plexus carcinoma a choroid plexus carcinoma that occurs during childhood    
childhood choroid plexus neoplasm a neoplasm that arises from the choroid plexus in the brain and occurs during childhood    
childhood chronic myelogenous leukemia, bcr-abl1 positive a chronic myelogenous leukemia occurring during childhood    
childhood classical hodgkin lymphoma a classic hodgkin lymphoma that occurs during childhood    
childhood clear cell sarcoma of soft tissue a rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells affecting children. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases    
childhood colorectal carcinoma a rare colorectal carcinoma that occurs during childhood    
childhood conventional osteosarcoma a high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood.  it arises from the medullary portion of the bone.  it affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus.  pain with or without a palpable mass is the most common clinical presentation.  it usually has an aggressive growth and may metastasize through the hematogenous route.  the lung is the most frequent site of metastasis    
childhood craniopharyngioma a craniopharyngioma that occurs during childhood.  the vast majority of cases are adamantinomatous craniopharyngiomas.  clinical signs and symptoms include endocrine deficiencies and visual disturbances    
childhood depression similar to depression in adults, childhood depression is characterized by a prolonged depressed or irritable mood accompanied by a significant loss of interest in activities, changes in appetite or sleep, decreased energy, feelings of worthlessness, and/or recurrent thoughts of death or suicide    
childhood desmoplastic small round cell tumor a desmoplastic small round cell tumor occurring in children    
childhood diffuse astrocytoma a diffuse astrocytoma that occurs during childhood    
childhood diffuse large b-cell lymphoma a diffuse large b-cell lymphoma that occurs during childhood    
childhood disintegrative disorder a pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism    
childhood dysgerminoma a dysgerminoma that arises from the ovary and occurs in children    
childhood embryonal carcinoma an embryonal carcinoma occurring in children    
childhood embryonal rhabdomyosarcoma a poorly circumscribed morphologic variant of rhabdomyosarcoma occurring in children.  the neoplasm is characterized by the presence of primitive skeletal muscle in any stage of myogenesis    
childhood ependymal tumor an ependymal tumor that occurs during childhood    
childhood ependymoblastoma an embryonal tumor with multilayered rosettes, c19mc-altered that occurs during childhood    
childhood ependymoma an ependymoma that arises from the central nervous system and occurs during childhood    
childhood epithelioid sarcoma an epithelioid sarcoma occurring in childhood    
childhood esophageal carcinoma a rare carcinoma of the esophagus that occurs during childhood    
childhood extracranial germ cell tumor a childhood benign or malignant germ cell tumor arising from an anatomic site other than the brain    
childhood extragonadal malignant germ cell tumor a malignant germ cell tumor in children arising from an anatomic site other than the testis or ovary    
childhood extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue an extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that occurs during childhood    
childhood extraskeletal osteosarcoma an osteosarcoma arising from the soft tissue, and occurring during childhood    
childhood fibrillary astrocytoma a fibrillary astrocytoma that occurs during childhood    
childhood fibrosarcoma a malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern    
childhood follicular lymphoma a nodal follicular lymphoma with favorable prognosis. It lacks bcl-2 rearrangement and 14;18 translocation. Nearly all cases are localized. It is usually seen in the pediatric population but similar lymphomas may occur in adults    
childhood ganglioglioma a ganglioglioma that arises from the central nervous system and occurs during childhood    
childhood ganglioneuroblastoma a ganglioneuroblastoma that occurs during childhood    
childhood gastric carcinoma a rare carcinoma of the stomach that occurs during childhood    
childhood gastrointestinal stromal tumor a gastrointestinal stromal tumor (gist) occurring in childhood. Pediatric gists differ biologically from adult gists in that only 11% of pediatric gists have activating mutations of kit and pdgfra    
childhood gemistocytic astrocytoma a gemistocytic astrocytoma that occurs during childhood    
childhood germ cell tumor a germ cell tumor that occurs during childhood    
childhood germinomatous germ cell tumor a germinomatous germ cell tumor occurring in children    
childhood giant cell glioblastoma a giant cell glioblastoma that occurs during childhood    
childhood glioblastoma a glioblastoma that occurs during childhood    
childhood gliomatosis cerebri gliomatosis cerebri that occurs during childhood    
childhood gliosarcoma a gliosarcoma that occurs during childhood    
childhood gonadal germ cell tumor a germ cell tumor that arises from the testis or ovary and occurs during childhood    
childhood health assessment questionnaire a pediatric modification of the stanford health assessment questionnaire (haq) used in the evaluation of functional disability and discomfort in children    
childhood hepatocellular carcinoma a hepatocellular carcinoma occurring in children    
childhood hodgkin lymphoma hodgkin lymphoma occurring in childhood    
childhood immature teratoma an immature teratoma occurring in children    
childhood immunoblastic lymphoma an immunoblastic lymphoma (a variant of diffuse large b-cell lymphoma) occurring in children    
childhood intermixed ganglioneuroblastoma an intermixed ganglioneuroblastoma that occurs during childhood    
childhood intracranial neoplasm a neoplasm that arises within the skull and occurs during childhood    
childhood langerhans cell histiocytosis langerhans cell histiocytosis that occurs during childhood    
childhood langerhans cell histiocytosis with risk organ involvement langerhans cell histiocytosis that occurs during childhood and involves the bone marrow, spleen, liver, or lung    
childhood langerhans cell histiocytosis without risk organ involvement langerhans cell histiocytosis that occurs during childhood and does not involve the bone marrow, spleen, liver, or lung    
childhood laryngeal carcinoma a rare carcinoma of the larynx that occurs during childhood    
childhood leiomyosarcoma an aggressive malignant smooth muscle neoplasm, occurring in children.  it is characterized by a proliferation of neoplastic spindle cells    
childhood leptomeningeal melanoma a melanoma that arises from leptomeningeal melanocytes and occurs in childhood    
childhood leukemia an acute or chronic leukemia that occurs during childhood    
childhood linear iga disease a blistering disorder characterized by linear deposition of iga at the dermoepidermal junction    
childhood liposarcoma a rare malignant neoplasm arising from adipocytes, that occurs in children.  the tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma    
childhood lymphoblastic lymphoma a lymphoblastic lymphoma occurring in children    
childhood lymphocyte-depleted classical hodgkin lymphoma lymphocyte-depleted classic hodgkin lymphoma occurring in childhood    
childhood lymphocyte-rich classical hodgkin lymphoma lymphocyte-rich classic hodgkin lymphoma occurring in childhood    
childhood lymphoma a hodgkin or non-hodgkin lymphoma that occurs during childhood    
childhood lymphomatoid granulomatosis lymphomatoid granulomatosis that occurs during childhood    
childhood malignant kidney tumor a malignant neoplasm that affects the kidney and occurs in childhood    
childhood malignant liver tumor a malignant neoplasm of the liver developed in childhood.  representative examples include hepatoblastoma, undifferentiated (embryonal) sarcoma, and extrarenal rhabdoid tumor    
childhood malignant ovarian germ cell tumor a malignant germ cell tumor in children arising from the ovary.  it includes the dysgerminoma, yolk sac tumor, choriocarcinoma, embryonal carcinoma and immature teratoma    
childhood malignant peripheral nerve sheath tumor a malignant peripheral nerve sheath tumor occurring in children    
childhood malignant testicular germ cell tumor a malignant germ cell tumor in children arising from the testis.  it includes the embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mixed germ cell tumors    
childhood mature t- and nk-cell lymphoma a mature t- and nk-cell non-hodgkin lymphoma that occurs during childhood    
childhood mature teratoma a mature teratoma occurring in children    
childhood medulloblastoma a medulloblastoma occurring in children    
childhood melanoma a melanoma that occurs during childhood    
childhood meningioma a meningioma that occurs during childhood    
childhood mesenchymal chondrosarcoma a mesenchymal chondrosarcoma occurring in children    
childhood mixed cellularity classical hodgkin lymphoma mixed cellularity classic hodgkin lymphoma occurring in childhood    
childhood mixed germ cell tumor a mixed germ cell tumor occurring in children    
childhood mixed glioma a mixed glioma that occurs during childhood    
childhood myelodysplastic syndrome an uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults    
childhood myositis assessment scale an observational performance-based instrument developed to evaluate muscle strength, physical function, and endurance in children with juvenile idiopathic inflammatory myopathy    
childhood myxoid chondrosarcoma a myxoid chondrosarcoma occurring in children    
childhood myxopapillary ependymoma a myxopapillary ependymoma that occurs during childhood    
childhood nasal cavity carcinoma a rare carcinoma of the nasal cavity that occurs during childhood    
childhood nasal type extranodal nk/t-cell lymphoma a nasal type extranodal nk/t-cell lymphoma occurring in childhood    
childhood neuroblastoma a neuroblastoma that occurs during childhood    
childhood nodal marginal zone lymphoma a nodal marginal zone lymphoma affecting the pediatric population, predominantly males.  it presents with asymptomatic and localized (mainly head and neck) disease in the vast majority of cases.  morphologically there is often progressive transformation of the germinal centers.  the prognosis is excellent    
childhood nodular ganglioneuroblastoma a nodular ganglioneuroblastoma that occurs during childhood    
childhood nodular lymphocyte predominant hodgkin lymphoma a nodular lymphocyte predominant hodgkin lymphoma occurring in children    
childhood nodular sclerosis classical hodgkin lymphoma nodular sclerosis classic hodgkin lymphoma occurring in childhood    
childhood non-germinomatous germ cell tumor a nongerminomatous germ cell tumor occurring in children    
childhood non-hodgkin lymphoma non-hodgkin lymphoma occurring in childhood    
childhood obesity a condition in which a child's body mass index (bmi) falls at or above the 95th percentile based on the normative values for the age and sex of the reference population    
childhood oligoastrocytoma an oligoastrocytoma that occurs during childhood    
childhood oligodendroglioma an oligodendroglioma that arises from the central nervous system and occurs during childhood    
childhood osteosarcoma an osteosarcoma occurring in childhood    
childhood ovarian choriocarcinoma a non-gestational choriocarcinoma that arises from the ovary and occurs in children    
childhood ovarian embryonal carcinoma an embryonal carcinoma that arises from the ovary and occurs in children    
childhood ovarian germ cell tumor a germ cell tumor that arises from the ovary and occurs in children    
childhood ovarian immature teratoma an immature teratoma that arises from the ovary and occurs in children    
childhood ovarian mature teratoma a mature teratoma that arises from the ovary and occurs in children    
childhood ovarian mixed germ cell tumor a mixed germ cell tumor that arises from the ovary and occurs in children    
childhood ovarian non-germinomatous germ cell tumor a nongerminomatous germ cell tumor that arises in the ovary and occurs in children    
childhood ovarian teratoma a mature or immature teratoma that arises from the ovary and occurs in children    
childhood ovarian yolk sac tumor a yolk sac tumor that arises from the ovary and occurs in children    
childhood overweight a condition in which a child's body mass index (bmi) falls at or above the 85th percentile, but below the 95th percentile based on the normative values for the age and sex of the reference population    
childhood paranasal sinus carcinoma a rare carcinoma of the paranasal sinus that occurs during childhood    
childhood parathyroid gland carcinoma a rare carcinoma of the parathyroid gland that occurs during childhood    
childhood parosteal osteosarcoma a low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.  it occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus.  painless swelling is the usual clinical sign. The prognosis is usually excellent    
childhood periosteal osteosarcoma a periosteal osteosarcoma occurring in childhood    
childhood pilocytic astrocytoma a pilocytic astrocytoma that occurs during childhood    
childhood pilomyxoid astrocytoma a pilomyxoid astrocytoma that occurs during childhood    
childhood pineal parenchymal cell neoplasm a pineal parenchymal cell neoplasm that occurs during childhood    
childhood pineal parenchymal tumor of intermediate differentiation a pineal parenchymal tumor of intermediate differentiation that occurs during childhood    
childhood pineoblastoma a pineoblastoma that occurs during childhood    
childhood pleomorphic rhabdomyosarcoma a rare aggressive rhabdomyosarcoma occurring in children.  the neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells    
childhood pleomorphic xanthoastrocytoma a pleomorphic xanthoastrocytoma that occurs during childhood    
childhood primary cutaneous anaplastic large cell lymphoma an anaplastic large cell lymphoma that occurs during childhood and is limited to the skin at the time of diagnosis    
childhood protoplasmic astrocytoma a protoplasmic astrocytoma that occurs during childhood    
childhood renal cell carcinoma a renal cell carcinoma that occurs during childhood    
childhood rhabdomyosarcoma an aggressive malignant mesenchymal neoplasm arising from skeletal muscle in children.  only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites    
childhood salivary gland carcinoma a rare carcinoma of the salivary gland that occurs during childhood    
childhood schizophrenia schizophrenia occurring in childhood    
childhood seminoma a seminoma occurring in children    
childhood small intestinal carcinoma a small intestinal carcinoma occurring in childhood    
childhood small intestine leiomyosarcoma a small intestinal leiomyosarcoma occurring in childhood    
childhood soft tissue sarcoma soft tissue sarcoma occurring in childhood    
childhood spinal cord tumor a benign or malignant neoplasm affecting the spinal cord during childhood    
childhood spindle cell rhabdomyosarcoma a spindle cell rhabdomyosarcoma occurring in children    
childhood supratentorial primitive neuroectodermal tumor a supratentorial embryonal tumor, not otherwise specified that occurs in childhood    
childhood synovial sarcoma a synovial sarcoma occurring in childhood    
childhood systemic anaplastic large cell lymphoma a systemic anaplastic large cell lymphoma that occurs during childhood    
childhood t acute lymphoblastic leukemia an acute lymphoblastic leukemia of t-cell origin occurring in children    
childhood t lymphoblastic lymphoma a t lymphoblastic lymphoma that occurs during childhood    
childhood teratoma a mature or immature teratoma occurring in children    
childhood testicular choriocarcinoma a choriocarcinoma that arises from the testis during childhood    
childhood testicular embryonal carcinoma an embryonal carcinoma that arises from the testis during childhood    
childhood testicular germ cell tumor a germ cell tumor that arises from the testis during childhood    
childhood testicular immature teratoma an immature teratoma that arises from the testis and occurs in children    
childhood testicular mature teratoma a mature teratoma that arises from the testis and occurs in children    
childhood testicular mixed embryonal carcinoma and teratoma a malignant testicular mixed germ cell neoplasm that occurs during childhood.  it is characterized by the presence of embryonal carcinoma and teratoma components    
childhood testicular mixed germ cell tumor a malignant mixed germ cell neoplasm that arises from the testis during childhood    
childhood testicular non-seminomatous germ cell tumor a non-seminomatous germ cell tumor that arises in the testis and occurs in children    
childhood testicular teratoma a teratoma that arises from the testis during childhood    
childhood testicular yolk sac tumor a yolk sac tumor that arises from the testis during childhood    
childhood thyroid gland carcinoma a rare carcinoma of the thyroid gland that occurs during childhood    
childhood thyroid gland follicular carcinoma a follicular thyroid gland carcinoma occurring in childhood    
childhood thyroid gland medullary carcinoma a medullary thyroid gland carcinoma occurring in childhood    
childhood thyroid gland papillary carcinoma a papillary thyroid gland carcinoma occurring in childhood. Ret/ptc gene rearrangements are more common in children than adults    
childhood visual pathway astrocytoma an astrocytoma that arises from the visual pathway and occurs during childhood    
childhood visual pathway glioma a glioma affecting the optic tract and occurring in childhood    
childhood wilms tumor a wilms tumor of the kidney which occurs in children    
childhood yolk sac tumor a yolk sac tumor that occurs during childhood    
childhood-onset systemic lupus erythematosus systemic lupus erythematosus (sle) diagnosed in individuals under the age of eighteen. Children frequently have multi-organ involvement and acute disease onset. Symptoms include fever, arthritis, skin lesions, anemia, and fatigue    
chills shivering or moderate tremors of the body often accompanied by a cold sensation    
chlamydial conjunctivitis inflammation of the conjunctiva in a newborn due to chlamydia trachomatis which was acquired during labor and delivery    
chloroquine compound a pharmaceutical agent initially used to cure or prevent malaria. A principal rheumatologic indication is the treatment of autoimmune disease including dermatomyositis, lupus, rheumatoid arthritis, and sjogren syndrome    
choking interference with respiration by compression or obstruction of the larynx or trachea    
cholangitis an acute or chronic inflammatory process affecting the biliary tract    
cholecystitis an acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones    
choledochal cyst cystic dilatation of the hepatic duct or bile duct    
cholelithiasis the presence of calculi in the gallbladder    
cholestasis impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system    
cholesterol side-chain cleavage deficiency clah due to loss-of-function mutations in the cyp11a1 gene, resulting in decreased or absent activity of the enzyme p450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis    
chondrodysplasia punctata a rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis    
chondroectodermal dysplasia a rare autosomal recessive syndrome caused by mutations in the evc gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations    
chorangioma a hemangioma arising from the fetal blood vessels in the placental villi    
chorangiosis an increased number of local terminal placental villous capillary cross-sections, generally with decreased capillary caliber, that shows variable distribution of villi    
chorea a neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with huntington's disease    
choreoathetosis abnormal movement characterized by involuntary jerking and writhing affecting the limbs, trunk, and facial muscles    
chorioamnionitis a morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion    
chorionic plate vessel thrombus a focus of thrombus adhered to the wall of a fetal blood vessel in the chorionic plate    
chorionic plate vessel thrombus with or without dystrophic calcification a focus of thrombus adhered to the wall of a fetal blood vessel in the chorionic plate. It can be completely or partially obstructive and may lead to downstream villous injury and calcification    
chorionic villus sampling the biopsy of placental tissue containing the chorionic villi from the maternal uterus in early pregnancy to diagnose fetal genetic defects    
chorioretinitis inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision    
choroid plexus cyst solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae    
chromosomal abnormality an irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material    
chromosome 16p11.2 deletion syndrome a microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders    
chromosome 18q deletion syndrome a condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts    
chronic choriodeciduitis increased parietal decidual lymphocytes invading the fetal chorion and/or amnion    
chronic decubitus a longstanding lesion caused by death of tissue due to external pressure    
chronic graft versus host disease a syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, and may affect multiple organs with manifestations similar to autoimmune diseases. The onset is usually within three years of transplantation or immunologic manipulation    
chronic kidney allograft nephropathy gradual loss of donor kidney function occurring months to years after transplantation. It is characterized by renal tubular atrophy, interstitial fibrosis, and arterial wall thickening    
chronic kidney disease impairment of the renal function secondary to chronic kidney damage persisting for three or more months    
chronic liver disease hepatic necrosis, inflammation, or scarring due to any cause that persists for more than 6 months. Manifestations may include signs and symptoms of cholestasis, portal hypertension, and/or abnormal liver function tests    
chronic lung disease a persistent non-neoplastic disorder of the lungs. Representative examples include: chronic obstructive pulmonary disease, chronic bronchitis, emphysema, pulmonary fibrosis, pneumoconiosis, asbestosis, atelectasis, radiation induced pneumonitis, and radiation fibrosis    
chronic maternal hypertension hypertension that predates pregnancy    
chronic maternal hypertension with superimposed preeclampsia chronic hypertension in association with preeclampsia    
chronic migraine episodes of migraine occurring on 15 or more days per month, for more than three months    
chronic pain ongoing or recurrent pain that persists beyond that which is expected following acute injury, usually 3 months or more    
chronic plasma cell deciduitis the presence of decidual plasma cells, scattered or in aggregate    
chronic pyelonephritis persistent pyelonephritis    
chronic recurrent multifocal osteomyelitis an autoinflammatory disease characterized by sterile bone lesions which are multifocal and/or recurrent    
chronic renal failure impairment of the renal function due to chronic kidney damage    
chronic sinusitis inflammation of the paranasal sinuses that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties    
chronic suppurative otitis media otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane    
chronic tic disorder a neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause    
chronic urate nephropathy chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium    
chronic uteroplacental vasculitis a lymphocytic inflammation of the uteroplacental vessels    
chronic uveitis uveitis that is usually insidious in onset, bilateral, and can be asymptomatic, most often affecting the anterior uveal tract, including the iris and ciliary body, and can result in long-term complications. It is most commonly associated with certain forms of juvenile idiopathic arthritis, but may occur independent of arthritis    
chronic villitis t-cell immune response with diffuse perivillous fibrin deposition associated with intrauterine growth restriction, pre-term birth and recurrent fetal loss    
chronological age how long something has existed; elapsed time since birth    
chylothorax a milky pleural effusion resulting from accumulation of lymph fluid in the pleural cavity. Causes include malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, sarcoidosis, and congenital causes    
ciliary motility defect defective movements of the cilia. It includes abnormal movements of the cilia in the nose and paranasal sinuses, the respiratory tract and spermatozoa    
circummarginate placenta a placenta characterized by fetal membranes which extend smoothly off the disc edge, and a subamnionic fibrin ring on all or part of the disc perimeter that delimits the greatest extent of the chorionic surface vessels    
circumscribed morphea a type of morphea in which the lesions are circular or ovoid, and may be superficial or deep. The superficial lesions can have an indurated, waxy, ivory colored center with surrounding erythema or violaceous color during the active stage. Deep lesions can be sclerotic and depressed from underlying atrophy, and may show minimal skin color changes. When there are several (greater than or equal to 4), larger (greater than 3cm) lesions on two or more body areas this is classified as "Generalized morphea"    
circumvallate placenta a placenta characterized by fetal membranes that are folded along all or part of the disc perimeter. The amnion may or may not be included in the folded tissue    
cirrhosis a disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis b, and hepatitis c. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy    
citrullinemia a rare autosomal recessive inherited disorder caused by mutations in the ass1 and slc25a13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood    
city a large and densely populated urban area; a city specified in an address    
classic congenital adrenal hyperplasia a severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement    
classic congenital mesoblastic nephroma a congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation    
classic creutzfeldt-jakob disease a rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease    
classical phenylketonuria a genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria    
clear cell sarcoma of the kidney a rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the bcor gene. It metastasizes to lung, bone, brain and soft tissue    
cleft lip a congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse    
cleft palate a congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development    
cleidocranial dysostosis a rare autosomal dominant disorder caused by mutations in the runx2 gene.  it is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature    
clinical assessment tool any one of several evaluation/assessment tools used to ascertain a patient's condition or diagnosis    
clinical chorioamnionitis inflammation of the fetal sac membranes, characterized by otherwise unexplained fever (at or above 38 degree c (100.4f)) with one or more of the following: uterine tenderness and/or irritability, leukocytosis, fetal tachycardia, maternal tachycardia, or malodorous vaginal discharge    
clonus a form of involuntary muscular movement characterized by alternating contractions and relaxation in rapid succession. In the context of reflex testing, the ability to elicit clonus indicates injury to the nerve tracts above the point at which the reflex was initiated    
closed angle glaucoma the sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity    
closed fracture a traumatic break to the bone in which the continuity of the bone has not broken through the skin    
closed globe injury traumatic injury to one or more intraocular structures without full thickness wound of the eyewall (sclera and cornea). (adapted from the birmingham eye trauma terminology system (betts))]]    
clostridium difficile infection a bacterial infection of the colon secondary to infection with clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. Difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated    
closure patent ductus arteriosus the closing of the ductus arteriosus; this can occur naturally or as a result of a therapeutic procedure    
clubbing of fingers an abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract    
cluster headache a headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms    
coagulation disorder a condition in which there is a deviation from or interruption of the normal coagulation properties of the blood    
coagulation disorder related to liver dysfunction a disorder of blood clotting that is attributable to a deficiency in liver function    
coagulation factor deficiency congenital or acquired deficiency of one of the coagulation factors. It results in bleeding    
coarctation of aorta congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps    
coccidioidomycosis a fungal infection caused by coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease    
coccygeal sinus a blind-ending, epithelial-lined tract that is located less than 5 mm from the anal verge    
cogan-reese syndrome a very rare syndrome characterized by eye abnormalities that lead to vision impairment. These abnormalities include iris atrophy, decreased corneal endothelium, iris nodules, adhesion of the iris to the lens and glaucoma    
cognitive assessment the examination of the cognitive capacities or deficits of an individual through the application of tests that probe that individual's ability to perform various mental activities such as perception, learning, and reasoning    
cognitive development the evolution of an individual's problem solving skills, memory, language development, and ability to process information about their environment    
cognitive impairment diminished mental function    
cole-carpenter syndrome bone dysplasia due to autosomal dominant mutation(s) in the p4hb gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the sec24d gene, encoding sec24 homolog d, copii coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia    
colic paroxysms of irritability, fussing or crying that starts and stops without obvious cause in an infant up to four months of age without failure to thrive. Episodes last three or more hours per day for at least three days per week for at least on week    
colitis inflammation of the colon    
collapsed lung atelectasis of an entire lung    
collapsing glomerulopathy segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia    
collection date the date on which the sample or data was collected    
collection time the hour, minute, and/or second at which the sample or data was collected    
coloboma of eyelid a congenital abnormality in which a part of the upper or lower eyelid tissue is missing    
coloboma of iris a congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris    
coloboma of retina a congenital or acquired defect characterized by the presence of a hole in the retina    
colon atresia a congenital malformation characterized by the absence of a normal opening in a part of the colon    
colonic band a pathologic fibrous band that impedes passage of intestinal contents through the colon    
colonic fistula an abnormal communication between the large intestine and another organ or cavity    
colonic stenosis narrowing of the lumen of colon    
colonic web a pathologic fibrous net that impedes passage of intestinal contents through the colon    
colonization the presence of microorganisms (not contamination) on a body surface, including the skin and mucosal surfaces (e.G., respiratory, gastrointestinal, and urogenital tracts). Colonization implies the lack of signs or symptoms of infection but often precedes infection    
color blindness the absence of or defect in the perception of colors    
colostomy site a surgically created external opening into the colon    
coma a state of profound unconsciousness associated with markedly depressed cerebral activity. Causes include central nervous system damage, intoxication, and metabolic abnormalities    
common atrioventricular canal a congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves    
common ventricle an umbrella term used to describe several very different complex congenital heart defects that share the same problem: the heart has only one functional ventricle (anatomically right or left or indeterminate) supplying the systemic circulation. These defects include tricuspid atresia, hypoplastic left or right heart syndrome, double outlet right ventricle, double inlet left ventricle, and other forms of single ventricle defects    
communicating hydrocephalus an abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations    
community-acquired pneumonia pneumonia that is not acquired in a hospital or long-term care facility setting    
compartment syndrome elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space    
compensated hypothyroidism hypothyroidism characterized by elevated thyroid-stimulating hormone (tsh) with normal circulating concentrations of thyroid hormones    
complement c3 complement c3 (1663 aa, ~187 kda) is encoded by the human c3 gene. This protein plays a role in complement-mediated immunity    
complement c4 complement component-4 (1744 aa, ~193 kda) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, c4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components    
complement deficiency a broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, c3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of c3 and of the classical activating pathway components: c1, c4, c2 also predispose to immune complex disease    
complement hemolytic activity assay a screening assay for circulating complement proteins in which diluted serum samples are added to antibody-coated erythrocytes and the percentage of cell lysis is measured. The values are expressed in hemolytic complement units per milliliter (ch50), the dilution of serum required to lyse 50 percent of the erythrocytes in the assay    
complete abortion expulsion of all the products of conception following spontaneous, medical or operative pregnancy termination    
complete atrioventricular canal defect (balanced) atrioventricular septal defect in which the atrioventricular junction is shared evenly between the left ventricle and right ventricle    
complete atrioventricular canal defect (unbalanced) atrioventricular septal defect in which there is usually a single dominant ventricle and a hypoplastic ventricle    
complete hydatidiform mole a gestational trophoblastic disorder in which there is no embryo or normal placental tissue and the chorionic villi are hydropic    
complete maternal surface of placenta a maternal placental surface that is smooth and without appreciable parenchymal loss    
complete resection the surgical removal of an entire structure or organ    
complete trisomy 13 syndrome a syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities    
complete trisomy 21 syndrome a syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease    
complex cyst of kidney a heterogeneous and/or septated cyst located in the kidney    
complex regional pain syndrome I a neurologic condition characterized by burning pain, tenderness, swelling, and changes in the skin color and temperature of a body part or extremity that has no identifiable nerve injury; most pediatric patients present with this form   reflex sympathetic dystrophy syndrome]]
complex regional pain syndrome ii a neurologic condition characterized by burning pain, tenderness, swelling, and changes in the skin color and temperature of a body part or extremity associated with demonstrable nerve injury. This form is less frequent in pediatric patients    
complex tic a tic that involves multiple muscles or muscle groups, or words or sentences    
complication any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure    
compound fetal presentation a presentation of the fetal hand or arm before the fetal vertex    
compulsive behavior a series of actions or ritualistic behavior that is difficult to suppress and is performed to relieve or prevent anxiety    
conception age the time elapsed between the day of conception and the day of delivery    
concussion a violent jar or shock, or the condition which results from such an injury    
conduct disorder a disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period    
conductive hearing loss hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea    
condyloma acuminatum a sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia    
confusion a mental state characterized by a lack of clear and orderly thought and behavior    
confusional arousal disorganized thinking, disorientation, or inappropriate responsiveness to external stimuli that occurs during and after awakening    
congenital adrenal hyperplasia a genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells    
congenital amegakaryocytosis a rare disorder of infancy characterized by marked reduction or absence of megakaryocytes and thrombocytopenia    
congenital anemia anemia, the cause of which is present at birth    
congenital anomaly of pulmonary veins aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium    
congenital aortic arch hypoplasia an underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome    
congenital bilateral cataracts cataract in both eyes that are present at birth    
congenital bleeding disorder a bleeding disorder that is diagnosed during childhood, with the presenting symptom of excessive bleeding    
congenital bundle of his tachycardia a congenital disorder characterized by an electrocardiographic finding of tachycardia that affects neonates and infants. It results from an increased automaticity in the atrioventricular node and his bundle    
congenital candidiasis a fungal infection by any of the candida species that is present at birth    
congenital cardiovascular abnormality a heart or vascular abnormality which is inborn or present at birth    
congenital cataract cataract that is present at birth    
congenital central hypoventilation a disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities    
congenital cerebellar hypoplasia hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures    
congenital chylothorax chylothorax that is present at birth    
congenital complete atrioventricular block a disorder characterized by an electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tissue disorders    
congenital cystic adenomatoid malformation of lung a congenital malformation that is present in the lungs of the newborn. It is characterized by a spectrum of lesions that range from single or multiple cysts to bulky overgrowth of bronchiole-like structures. Signs and symptoms include respiratory distress, recurrent pulmonary infections, dyspnea, and failure to thrive    
congenital cystic hygroma a congenital lymphatic malformation usually arising from the neck and characterized by cystic dilation of the lymphatic vessels    
congenital cytomegaloviral infection an infection with the cytomegalovirus that is present from birth    
congenital deformation a congenital anatomic abnormality manifested during the neonatal period    
congenital diaphragmatic hernia diaphragmatic hernia that is present at birth    
congenital disruption a morphologic defect of an organ, part of an organ, or a larger region of the body that results from the extrinsic breakdown of, or an interference with, an originally normal developmental process    
congenital dyserythropoietic anemia a rare congenital anemia caused by mutations in the cdan1 and sec23b genes    
congenital dysplasia abnormal tissue formation due to abnormal cellular organization, which may result in a morphologic defect    
congenital facial nerve palsy partial or complete paralysis of the facial muscles of one side of an individual's face that is present at birth. It is caused by damage to the seventh cranial nerve    
congenital gastrointestinal disorder an abnormality of the digestive system that is present at birth or detected in the neonatal period    
congenital generalized lipodystrophy a genetic disorder caused by mutations in the agpat2 and bscl2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus    
congenital genitourinary abnormality an abnormality of the genitourinary system that is present at birth or detected in the neonatal period    
congenital growth hormone deficiency growth hormone deficiency the cause of which is present at birth    
congenital h-type tracheoesophageal fistula congenital tracheoesophageal fistula without esophageal atresia    
congenital hamartoma a hamartomatous lesion which is present at birth    
congenital heart disease a heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of fallot, and patent foramen ovale    
congenital hematological disorder a disorder of the blood that is present at birth    
congenital hydrocephalus hydrocephalus that is present at birth    
congenital hydronephrosis collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth    
congenital hydroureter dilatation of the ureter caused by obstruction of urine flow that is present at birth    
congenital hypergonadotropic hypogonadism ovarian or testicular dysfunction associated with high levels of gonadotropins, that is present at birth    
congenital hyperinsulinism an etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children   nesidioblastosis]]
congenital hyperthyroidism hyperthyroidism, the cause of which is present at birth    
congenital hypogonadotropic hypogonadism insufficient production of estrogen or testosterone in the ovaries or testes due to decreased secretion of gonadotropins as a result of pituitary or hypothalamus gland dysfunction that is present at birth    
congenital hypothyroidism a deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality    
congenital ileal stenosis narrowing of the lumen of the ileum that is present at birth    
congenital isolated adrenocorticotropic hormone deficiency adrenocorticotropic hormone (acth) deficiency due to mutation(s) in the tbx19 gene    
congenital isolated thyroid stimulating hormone deficiency thyroid stimulating hormone (tsh) deficiency associated with mutations(s) in the tshb gene that encodes thyrotropin subunit beta    
congenital jejunal stenosis narrowing of the lumen of the jejunum that is present at birth    
congenital lipoid adrenal hyperplasia congenital adrenal hyperplasia resulting from the deposition of lipid in the adrenal glands due to a defect of intracellular cholesterol transport or metabolism. The condition is characterized by deficiencies of glucocorticoids, mineralocorticoids, and sex steroids: 46,xy infants are undervirilized, whereas 46,xx infants have no genital manifestations    
congenital listeriosis a bacterial infection by listeria monocytogenes that is present at birth    
congenital lobar emphysema a rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis    
congenital lung malformation a malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia    
congenital malformation any abnormality, anatomical or biochemical, evident at birth or during the neonatal period    
congenital malformation syndrome a syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system    
congenital malformation syndrome related to known exogenous cause a syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause    
congenital melanocytic nevus a melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion    
congenital mesoblastic nephroma a low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis    
congenital metabolic disorder a group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body    
congenital methemoglobinemia methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme nadh methemoglobin reductase or the presence of abnormal hemoglobin m. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present    
congenital musculoskeletal defect an abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period    
congenital myotonic dystrophy myotonic dystrophy that is present at birth    
congenital nephrotic syndrome a rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis    
congenital nephrotic syndrome - cytomegalovirus associated nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life    
congenital nephrotic syndrome - diffuse mesangial sclerosis nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis    
congenital nephrotic syndrome - focal segmental glomerulosclerosis nephrotic syndrome within the first three months of life, characterized by scarring of the glomerulus, in which only part of the glomerulus is involved, and less than 50% of the glomeruli are affected    
congenital nephrotic syndrome - infection associated nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process    
congenital nephrotic syndrome - rubivirus associated nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life    
congenital nephrotic syndrome - toxoplasma associated nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life    
congenital nephrotic syndrome - treponema pallidum associated nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life    
congenital nervous system disorder an abnormality of the nervous system that is present at birth or detected in the neonatal period    
congenital neurogenic bladder neurogenic bladder, the cause of which is present at birth    
congenital or acquired anatomic abnormality an anatomic abnormality that is either present at birth or appears later in life    
congenital ovarian failure ovarian failure, the cause of which is present at birth    
congenital partial lipodystrophy an autosomal dominant inherited disorder that appears in childhood or adolescence. It is characterized by loss of adipose tissue in the extremities and accumulation of adipose tissue in the face and neck    
congenital phrenic nerve injury damage to the phrenic nerve that is present at birth    
congenital phrenic nerve palsy damage to the phrenic nerve that results in paralysis of the hemidiaphragm at birth    
congenital postural scoliosis abnormal sideways curvature of the spine that is present at birth    
congenital pulmonary lymphangiectasia a congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of the lungs. Signs and symptoms appear at birth and include tachypnea, cyanosis, and respiratory distress    
congenital pulmonary valve insufficiency dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth    
congenital pure red cell aplasia an inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy    
congenital renal hypoplasia the underdevelopment of otherwise normal renal parenchyma, characterized by decreased nephron size and possibly a decreased number of nephrons at birth    
congenital reproductive system abnormality a disorder that affects the female or male reproductive system and is present at birth. Representative examples include ovarian agenesis, vaginal agenesis, and penile agenesis    
congenital respiratory system disorder an abnormality of the respiratory system that is present at birth or detected in the neonatal period    
congenital rubella syndrome a condition, whose clinical manifestations include intrauterine growth restriction, petechial rash, jaundice, generalized lymphadenopathy, hepatosplenomegaly, peripheral pulmonary stenosis, cataracts, and sensorineural deafness, that is caused by fetal exposure to the rubella virus during the first trimester of pregnancy    
congenital septal defect a congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum    
congenital skin disorder a skin abnormality that is present at birth or detected in the neonatal period    
congenital supraventricular tachycardia a disorder present at birth characterized by an electrocardiographic finding of a tachycardia that originates above the ventricles    
congenital syphilis a life-threatening bacterial infection of the newborn caused by treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia    
congenital systemic disorder an inherited disorder that presents with systemic manifestations    
congenital testicular failure testicular failure, the cause of which is present at birth    
congenital thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura for which the cause is present from birth    
congenital unilateral cataract cataract in one eye that is present at birth    
congenital ureteropelvic junction obstruction complete or partial blockage of the ureter at the point where it enters the kidney that is present at birth    
congenital ureterovesical junction obstruction complete or partial blockage of the ureter at the point where it enters the bladder that is present at birth    
congenital urinary system abnormality an abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra    
congenital urinary tract obstruction an impediment to the flow of urine along the urinary tract, which is present at birth    
congenital varicella syndrome a condition, whose clinical manifestations include intrauterine growth restriction, scarring cicatricial lesion of the limbs, abnormalities of the limbs, microcephaly, chorioretinitis, microphthalmia, cataracts, cortical atrophy, seizures, and evidence of damage to the autonomic nervous system, that is caused by fetal exposure to the varicella zoster virus during the first trimester of pregnancy    
congenital varicella zoster infection an infection, characterized by the rash of chickenpox or shingles, that is caused by the varicella-zoster virus transmitted directly from the mother to the fetus or neonate during late pregnancy or childbirth    
congenital vena cava abnormality an abnormality of the superior or inferior vena cava that is present at birth. Representative examples include persistent left superior vena cava, absence of infrarenal inferior vena cava, or absence of the entire inferior vena cava    
congenital ventricular tachycardia an electrocardiographic finding of a tachycardia that originates in the ventricles that is present at birth    
congential aortic valve insufficiency dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth    
congestive heart failure failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales    
congruent visual field defect identically shaped visual field defect in the same location in both eyes    
conjoined twins a monoamniotic twin gestation in which the twins share one or more organs    
conjugate vaccine a category of vaccines created by covalently attaching an antigen from an organism to a carrier protein from the same organism to aid in the delivery of the immunogen    
conjugated hyperbilirubinemia abnormally high level of conjugated bilirubin in the blood    
conjunctival foreign body external material in or on the conjunctiva    
conjunctivitis inflammation of the conjunctiva of the eye    
conn syndrome an endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache    
connective tissue the supporting or framework tissue of the animal body, formed of fibrous and ground substance with more or less numerous cells of various kinds; it is derived from the mesenchyme, and this in turn from the mesoderm; the varieties of connective tissue are: areolar or loose; adipose; dense, regular or irregular, white fibrous; elastic; mucous; and lymphoid tissue; cartilage; and bone; the blood and lymph may be regarded as connective tissues the ground substance of which is a liquid    
connective tissue disorder a non-neoplastic or neoplastic disorder that affects the connective tissue    
constipation irregular and infrequent or difficult evacuation of the bowels    
consumptive coagulopathy disorders of coagulation caused by the depletion of coagulation factors in the peripheral blood    
contact dermatitis an inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen    
contact transmission the transmission of an infectious agent via touch    
continent epispadias epispadias with urinary continence    
contrasexual sexual development the development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls)    
contrast - induced nephropathy kidney damage resulting from exposure to contrast agents    
contrast agent substances administered during imaging procedures that allows delineation of internal structures. Contrast agents appear opaque due to the difference in absorption of x-rays or other electromagnetic waves and surrounding tissue    
contusion a bruise due to trauma    
coombs test positive a laboratory test result demonstrating the presence of antibodies that act against red blood cells    
coprolalia involuntary and repetitive utterances of obscene or socially inappropriate words or statements    
cor pulmonale heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure    
cor triatriatum a rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities    
cord blood transplantation a therapeutic procedure that involves the transplantation of hematopoietic stem cells collected from the umbilical cord or placenta    
corneal abrasion injury to the epithelium of the cornea    
corneal dellen corneal thinning just anterior to the limbus secondary to abnormal and/or irregular bulbar conjunctival contour    
corneal foreign body external material in or on the cornea    
cornelia de lange syndrome a rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the nipbl gene. Less severe forms of the syndrome are caused by mutations in the smc1a and smc3 genes    
cornual pregnancy an abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus    
coronary anomaly any deviation from normal in the coronary vasculature    
coronary artery stent an expandable hollow tube that is advanced into an obstructed or narrow coronary artery to restore blood flow to the heart    
corpus callosum agenesis a congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment    
corrected age chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm    
cortical blindness visual impairment due to visual cortex dysfunction    
corticosteroid hormones synthesized in the cortex of the adrenal gland and consist of two subclasses, glucocorticoids (carbohydrate regulation) and mineralocorticoids (electrolyte regulation)    
corticotropin-releasing hormone deficiency diminished production of adrenocortical hormones due to presumed insufficient secretion of corticotropin-releasing hormone from the hypothalamus   tertiary adrenal insufficiency]]
costello syndrome a genetic syndrome caused by mutations in the hras gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms    
cough a sudden, often repetitive, spasmodic contraction of the thoracic cavity, resulting in violent release of air from the lungs, and usually accompanied by a distinctive sound    
cranial nerve disorder a neoplastic or non-neoplastic disorder that affects one of the cranial nerves    
cranial suture separation a finding of increased space between the intersections of a newborn's cranial bones    
craniodiaphyseal dysplasia an autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the sost gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood    
craniofacial dysostosis a syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism    
craniopharyngioma a benign, partly cystic, epithelial tumor of the sellar region, presumably derived from rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (adapted from who)]]    
craniorachischisis a rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth    
craniosynostosis a congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull    
craniotabes softening of the skull seen in newborns due to incomplete mineralization    
craniotubular hyperostosis a group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the sost or lrp5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations    
crescentic glomerulonephritis a histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months    
cri du chat syndrome a genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure    
crimean-congo hemorrhagic fever a tick borne hemorrhagic fever resulting from infection by nairovirus    
crohn's disease a gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement    
croup acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor    
crown to rump length measurement a measurement from the high prominence of the head to the low prominence of the buttocks of a fetus or embryo during ultrasound. This measurement is useful in determining gestational age    
crying the shedding of tears associated with emotions, usually sadness but also joy or frustration    
cryoglobulinemic glomerulonephritis glomerulonephritis in the context of cryoglobulinemia    
cryoglobulinemic glomerulonephritis secondary to systemic disease cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions    
cryopyrin-associated periodic syndrome a group of autoinflammatory syndromes caused by mutations in the nlrp3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather    
cryptococcosis an acute or chronic, localized or disseminated infection by cryptococcus neoformans.  sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004]]    
cryptophthalmos syndrome a rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly    
cryptorchidism the failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life    
cryptosporidiosis an infection that is caused by cryptosporidium parvum or hominis, which is acquired by inhalation or ingestion of infectious spores, and which typically manifests as acute enteritis    
crystalline lens dislocation displacement of the crystalline lens from the visual axis    
cuffed hemodialysis catheter a hollow tube that is inserted into a large vein to carry blood to and from a dialysis machine where the exit site is secured just under the skin with a band-like structure to prevent slippage and infection    
cuffed peritoneal dialysis catheter a hollow tube that is inserted in the abdomen to carry fluid into and out of the abdominal cavity where the exit site is secured just under the skin with a band-like structure to prevent slippage and infection    
cushing disease cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (acth) from the pituitary gland    
cushing syndrome a syndrome caused by high levels of cortisol in the blood either due to excessive production and secretion of corticosteroids secondary to pituitary or adrenocortical neoplasms, or intake of glucocorticoid drugs. Signs and symptoms include a round face, upper body obesity, fragile and thin skin, purple stretch marks in the skin, fatigue, muscle weakness, hypertension, diabetes mellitus, hypertrichosis and amenorrhea in women, impotence in men, and osteoporosis    
cushingoid a constellation of signs and symptoms caused by an excess of glucocorticoids. Classic features include moon facies, buffalo hump, obesity, striae and adiposity    
cutaneous assessment tool an assessment of a wide range of cutaneous manifestations reflecting activity and damage from idiopathic inflammatory myopathy in children and adults    
cutaneous dermatomyositis disease area and severity index an instrument that measures activity and damage in the skin of dermatomyositis patients    
cutaneous fistula an abnormal communication between the skin and another organ or cavity    
cutaneous lupus erythematosus an autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease    
cutaneous polyarteritis nodosa a form of vasculitis that involves small to medium size arteries of the dermis and subcutaneous tissue. The disorder manifests with tender subcutaneous nodules, livedo reticularis, cutaneous ulcers and necrosis; while internal organ involvement is typically spared, extra-cutaneous symptoms may be present    
cutaneous vasculitis inflammation of the blood vessel wall characterized by palpable purpura    
cutting behavior self-injury caused by making cuts into the skin    
cyanosis a bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced concentration of oxygenated hemoglobin in the blood    
cyanotic body blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body    
cyanotic limbs blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs    
cyclic citrullinated peptide antibody an autoantibody directed against peptides or proteins whose arginine residues have been enzymatically converted to citrulline. It is often associated with rheumatoid arthritis    
cyclic neutropenia a hematologic disorder caused by a mutation in the elane (ela2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever    
cyclical vomiting a condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor    
cyclosporiasis a protozoan infection that is caused by cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain    
cyst a sac-like closed membranous structure that may be empty or contain fluid or amorphous material    
cystic fibrosis a congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat    
cystic fibrosis pulmonary exacerbation an acute episode of worsening pulmonary symptoms related to cystic fibrosis    
cystic fibrosis with meconium ileus a congenital metabolic detected in the neonatal period that is characterized by the presence of a meconium ileus. The disease affects the exocrine glands andis inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather    
cystic hygroma a benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels    
cystic kidney disease a congenital or acquired kidney disorder characterized by the presence of renal cysts    
cystic partially differentiated nephroblastoma a variant of wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa.  the septa contain immature epithelial cells, immature stromal cells, and blastema cells.  surgical resection is usually curative    
cystic periventricular leukomalacia necrosis and softening of the white matter around the ventricles in the brain associated with cystic changes    
cysticercosis a parasitic infection caused by the larval form of taenia solium. It is a disseminated infection affecting the central nervous system, subcutaneous tissues, lungs, heart and liver. The most serious complications result from infection of the brain parenchyma. Patients may develop seizures, hydrocephalus, encephalopathy and meningoencephalitis    
cystine urolithiasis urolithiasis in which the composition of the stones is predominantly cystine    
cystitis inflammation of the urinary bladder    
cystoid macular edema an accumulation of fluid in the outer plexiform layer, secondary to an increase in permeability of perifoveal retinal capillaries    
cystoisosporiasis an intestinal infection with isospora belli   isosporiasis]]
cystostomy site a surgically created external opening into the anterior wall of the bladder    
cytochrome-c oxidase deficiency a very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-c oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis    
cytokine release syndrome a syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening    
dandy-walker syndrome a rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa    
date the particular day, month and year an event has happened or will happen    
dax1 deficiency decreased activity of the nuclear receptor protein dax1, caused by mutation(s) in the nr0b1 gene (on the x chromosome), resulting in adrenal hypoplasia congenita that may be associated with hypogonadotropic hypogonadism    
deafness an inherited or acquired condition characterized by the inability to hear in one or both ears    
death the cessation of life    
deceased sibling the historical fact that a legal or consanguineous brother or sister has died    
deciduitis acute inflammation characterized by neutrophilic infiltration of the decidua    
decreased attention impaired ability to focus on a subject or idea    
decreased best corrected visual acuity diminished clarity of vision despite optimal optical correction (glasses and/or contacts)    
decreased bladder compliance the loss of elasticity of the bladder wall with increased urine volume    
decreased bone density a laboratory finding indicating the presence of lower than normal bone mineral density    
decreased concentration reduced ability to sustain attention    
decreased libido decreased sexual desire    
decreased physical activity a reduction in the normal physical activity for an individual    
decreased uncorrected visual acuity diminished clarity of vision without optical correction (glasses and/or contacts)    
decreased visual acuity diminished clarity of vision    
decreased visual acuity with current correction diminished clarity of vision with current correction (glasses and/or contacts)    
decubitus death of tissue due to external pressure    
deep circumscribed morphea circumscribed morphea in which the lesions are found in the deep dermis, panniculus, fascia, or superficial muscle    
deep venous thrombosis a blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity    
defect in the gene for mis type 2 receptor a defect in the misr ii gene    
defective thyroglobulin synthesis impairment in the intracellular synthesis of thyroglobulin    
defective thyroglobulin transport impairment in the intracellular transport of thyroglobulin    
deficiency of the interleukin-1 receptor antagonist an autoinflammatory disease caused by mutations in the il1rn gene, which encodes the il1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis    
deficiency of the interleukin-36 receptor antagonist an autoinflammatory disease caused by mutations in the il36rn gene, which encodes the il36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash    
dehydration a condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis    
deiodinase deficiency presumed loss-of-function mutation(s) in the iyd gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase    
delayed epiphyseal fusion abnormally late fusion of the bone growth plate    
delayed graft function the need for dialysis within a week of kidney transplant    
delayed puberty unusually late sexual maturity    
delirium a usually reversible condition characterized by the acute and sudden development of confusion, illusions, movement changes, inattentiveness, agitation, and hallucinations. Causes include drug abuse, poisoning, infectious processes, and fluid and electrolyte imbalance    
delivery by destructive operation extraction of a fetus through the cervix using destructive surgical techniques    
delivery procedure description of the method by which a fetus is delivered    
delusion false personal beliefs held contrary to reality, despite contradictory evidence and common sense    
demographics the statistical characterization of human populations or segments of human populations (e.G., characterization by age, sex, race, or income)    
demyelinating disorder a broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and guillain-barre syndrome, among others    
dengue an acute infection caused by dengue virus. Signs and symptoms include sudden onset of fever, headache, rash, arthralgia, and myalgia. It is transmitted through mosquitoes    
dense deposit disease proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits    
dental caries the decay of a tooth, in which it becomes softened, discolored, and/or porous    
dental disorder a non-neoplastic or neoplastic (benign or malignant) disorder affecting the teeth    
dental fluorosis a condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel    
denver development screening test a test developed at the university of colorado medical center to assess the developmental status of infants and children from birth to six years of age    
denys-drash syndrome a rare congenital syndrome caused by mutations in the wt1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), wilms tumor, and intersex disorders    
denys-drash syndrome, incomplete condition comprising congenital nephrotic syndrome with associated wt1 gene mutation with either intersex disorder or wilms tumor    
depigmentation loss of all color from the skin    
depressed level of consciousness a neurologic state characterized by decreased ability to perceive and respond    
depressed mood an emotional state characterized by feelings of sadness, emptiness, and/or tearfulness    
dermatographism a raised, inflamed skin reaction to pressure from rubbing or scratching    
dermatomyositis skin severity index an assessment of disease activity in the skin of patients with dermatomyositis    
dermatophytosis a common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area    
dermoid cyst a mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin    
desmoplastic infantile astrocytoma a who grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (adapted from who)]]    
desmoplastic infantile ganglioglioma a who grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (adapted from who)]]    
desquamation shedding of the outer layer of skin or mucosal tissue    
developmental delay failure to meet, or late achievement of developmental milestones    
developmental disorder a disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones    
developmental dysplasia of hip a spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation    
developmental dyspraxia a disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition   clumsy child syndrome]]
developmental milestone physical or behavioral signs of maturation or skills gained by a developing child, which should be achieved by a given age that provide important information regarding the child's development. The milestones are different for each age range. Failure to achieve a particular milestone by a given age is indicative of developmental delay    
device an object contrived for a specific purpose    
device complication any problem arising from the use of a medical device    
device embolization movement of a medical device to an unintended location within the body with resulting obstruction of an organ or vessel    
device migration movement of the device to an unintended location within the body    
dextro-transposition of the great arteries a cyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery    
dextro-transposition of the great vessels with intact ventricular septum a congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles    
dextro-transposition of the great vessels with ventricular septal defect a congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with a pathologic opening between the cardiac ventricles    
dextrocardia a rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects    
dextrocardia situs solitus a congenital heart defect in which the heart is located in the right side and the other organs are in their normal position    
diabetes insipidus a disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related    
diabetes mellitus a metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization    
diabetic embryopathy a condition in which the offspring of a mother with diabetes predating pregnancy develops congenital malformations that can affect multiple organ systems including the brain and spinal cord, the heart and major vessels, the kidneys, the gut, and skeletal structures    
diabetic fetopathy a constellation of features seen in the hyperinsulinemic fetus of a diabetic mother that include macrosomia, postnatal hypoglycemia and polycythemia    
diabetic ketoacidosis the metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids    
diabetic nephropathy progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis    
diabetic retinopathy a chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness    
diagnosis the investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results of such an investigation    
diagnostic procedure any procedure or test to diagnose a disease or disorder    
dialysis access complication any issue that arises as a consequence of a problem with a patient's dialysis access    
dialysis catheter embolism an obstruction of a vessel caused by a detached fragment of an indwelling dialysis catheter    
dialysis catheter exit site infection local infection at the dialysis catheter exit site    
dialysis catheter fracture a crack or break in a dialysis catheter caused by material weakness or mechanical compression    
dialysis catheter infection a local or systemic infection associated with the use of a dialysis catheter    
dialysis catheter obstruction blockage of a dialysis catheter by a thrombus or other substance    
dialysis catheter tunnel infection local infection involving the subcutaneously tunneled portion of a dialysis catheter    
dialysis membrane reaction a severe hypersensitivity-like reaction occurring during dialysis due to exposure to the dialysis membrane    
dialyzer blood leak leakage of blood into the dialysate during hemodialysis due to apparatus malfunction    
diaper dermatitis an inflammatory skin condition in the diaper area that may be caused by irritation or infection    
diaphoresis profuse sweating    
diaphragmatic eventration a congenital or acquired abnormality characterized by elevation of the hemidiaphragm    
diaphragmatic hernia a congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse    
diarrhea watery bowel movements    
diarrhea-associated hemolytic uremic syndrome hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria    
diastematomyelia a rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida    
dichorionic diamniotic twin pregnancy a pregnancy involving two fetuses that each have separate chorions and amniotic sacs    
diencephalic syndrome of infancy emaciation in the setting of normal linear growth and intellectual development, which is usually associated with neoplasms involving the anterior hypothalamus in infancy or early childhood    
diethylstilbestrol syndrome a disorder likely to occur in children and grandchildren of a woman treated with diethylstilbestrol during pregnancy. Manifestations include vaginal adenosis, cervical malformations, vaginal septae, genital tract anomalies or fallopian tube anomalies causing subsequent fertility problems    
differences of sex development a congenital disorder characterized by abnormalities in the development of the sexual characteristics    
diffuse cutaneous systemic sclerosis a variant of systemic scleroderma characterized by sclerosis of the skin, raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement    
diffuse endocapillary glomerulonephritis glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli    
diffuse goiter enlargement of the entire thyroid gland without discrete mass(es)    
diffuse katp-associated hyperinsulinism katp-associated hyperinsulinism affecting all pancreatic beta cells    
digital fetal scalp stimulation a fetal stimulation technique that uses transvaginal digital pressure or rubbing to the fetal head to elicit a fetal heart rate acceleration response during labor    
dilated cardiomyopathy cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure    
dimorphic fungus a fungus that grows as either a yeast or a mold    
diphtheria a gram-positive bacterial infection caused by corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects    
diphtheria toxoid/tetanus toxoid vaccine adsorbed a vaccine containing detoxified tetanus toxoid and detoxified diphtheria toxoid adsorbed on aluminum phosphate with active immunizing activity against diphtheria and tetanus. Intramuscular injection with this vaccine activates the immune system to develop antibodies against tetanus toxin and diphtheria toxin    
diphtheria toxoid/tetanus toxoid/acellular pertussis vaccine a vaccine containing detoxified tetanus toxoid, detoxified diphtheria toxoid and acellular pertussis antigens, adsorbed on aluminum phosphate, with active immunizing activity against diphtheria, tetanus and pertussis. The acellular pertussis vaccine components, produced by bordetella pertussis, are detoxified pertussis toxin (pt), filamentous hemagglutinin (fha), pertactin (prn) and fimbriae types 2 and 3 (fim). Intramuscular injection with this vaccine activates the immune system to develop antibodies against tetanus toxin, diphtheria toxin and b. Pertussis antigens    
diphtheria toxoid/tetanus toxoid/inactivated pertussis vaccine dtp a vaccine containing detoxified tetanus toxoid, detoxified diphtheria toxoid and inactivated pertussis antigens    
diphyllobothriasis an infection that is caused by the tapeworm diphyllobothrium latum and related species; it is transmitted via consumption of raw or undercooked fish, and symptoms include abdominal discomfort, diarrhea, vomiting, fatigue, weight loss, and vitamin b12 deficiency    
diplegia paralysis affecting corresponding parts on both sides of the body    
diplopia the condition in which a single object appears as two objects. Also called "Double vision." (from medterms.Com)]]    
dipsogenic diabetes insipidus diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism    
direct inguinal hernia a protrusion of the abdominal cavity contents into the inguinal canal through the superficial inguinal ring    
direct maternal death death resulting from conditions or complications which are unique to pregnancy and occur during the antepartum, intrapartum, or postpartum period    
direct transmission the transmission of an infectious agent from a source (e.G., person, animal, or surface) to a host without an intermediary    
discoid lupus erythematosus a chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (sle)    
discoid rash a disc-shaped patch(es) of skin inflammation that is red, raised, and scaly; it typically develops on the face, scalp, and neck, and often leaves scars and dyspigmentation as a result of postinflammatory hyperpigmentation    
discordant twin a twin whose estimated fetal weight is determined to have 20% or greater difference from its sibling    
discordant ventriculoarterial connection a rare congenital cardiovascular abnormality in which the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle    
disease or disorder any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function    
disease-modifying antirheumatic drug a pharmaceutical agent that is categorized by its ability to alter the progression of autoimmune disease    
disinhibited unrestrained behavior, often at odds with social norms    
dislodged catheter a catheter that has moved from its intended location    
dislodged peritoneal dialysis catheter malposition of a peritoneal dialysis catheter    
disorder of androgen synthesis an enzyme deficiency in the androgen biosynthesis pathway, resulting in the underproduction of one or more androgens by the adrenal glands and/or gonads    
disordered eating abnormal eating behaviors, including binge eating, compulsive eating, emotional eating, night eating, and self-induced vomiting, though not at a level that rises to the diagnosis of eating disorder    
disordered thinking incoherent, disorganized or illogical thought processes    
displaced peritoneal dialysis catheter malposition and dysfunction of a peritoneal dialysis catheter    
disrupted suture the loss of tension or continuity of sutures    
disseminated bacillus calmette-guérin infection a rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of mycobacterium bovis, bacillus calmette-guerin    
disseminated candidiasis a fungal infection by any of the candida species in two or more non-contiguous sterile body compartments    
disseminated intravascular coagulation a pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage    
disseminated juvenile xanthogranuloma juvenile xanthogranuloma disseminated to extracutaneous sites including mucosal surfaces, lung, central nervous system, pituitary, lymph nodes, eye, liver, and bone marrow. It is characterized by the presence of lipid-laden, foamy histiocytes and touton-type giant cells forming nodules in the affected anatomic sites    
disseminated listeriosis a bacterial infection by listeria monocytogenes in two or more non-contiguous sterile body compartments    
disseminated varicella zoster vaccine virus infection a rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of the varicella-zoster virus, oka    
distal 18q deletion syndrome a contiguous gene deletion syndrome involving deletion of the distal portion of the long arm of chromosome 18. The clinically heterogenous condition is characterized by some or all of the following: growth hormone deficiency with resulting short stature; hand, foot, skull, facial, and genital anomalies; hypotonia; and developmental delay    
distal renal tubular acidosis failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis    
disturbance of temperature regulation any condition characterized by an inability to regulate body temperature    
dizziness a sensation of lightheadedness, unsteadiness, turning, spinning or rocking    
doctor's information a collection of information about a patient's doctor    
dog bite a wound received from the teeth of a dog    
donohue syndrome a rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia   leprechaunism]]
double cortex syndrome a developmental brain abnormality characterized by atypical migration of neurons during cortical development    
double outlet right ventricle a rare congenital cardiovascular abnormality in which both the aorta and the pulmonary artery arise from the right ventricle    
dracunculiasis a parasitic infection caused by dracunculus medinensis. It is caused by drinking water contaminated with water fleas. The larvae enter the body through the intestine. Signs and symptoms include pain, edema, blisters, and ulcers    
dravet syndrome a severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills    
drooling saliva spilling out of the mouth    
droplet transmission the direct transmission of an infectious agent to a host by a spray of a relatively large (greater than five microns), short range respiratory aerosol    
drug exposure via breast milk ingestion of drugs contained in breast milk    
drug induced cutaneous lupus erythematosus a reaction to a drug characterized by skin findings common to lupus including photosensitivity and butterfly rash; typically it resolves after drug discontinuation    
drug induced cutaneous vasculitis a skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations    
drug induced lupus erythematosus an autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs    
drug rash an eruption in the skin due to exposure to a pharmacologic substance    
drug reaction with eosinophilia and systemic symptoms a potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs    
drug therapy treatment of disease through the use of drugs    
drug use history a description of an individual's current and past use and/or abuse of drugs and chemicals. This includes prescription medication, illicit drugs and recreational substances    
drug withdrawal a substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.G. Opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions    
drug-induced aplastic anemia a state of bone marrow suppression and failure that is caused by a cytotoxic or adverse immunologic response to a drug treatment, leading to a failure of production of red blood cells, white cells and platelets    
drug-induced kidney injury kidney damage resulting from exposure to drugs    
drug-induced methemoglobinemia methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)    
drug-induced thrombocytopenia thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction    
drug-induced tubulointerstitial nephritis tubulointerstitial nephritis resulting from a drug exposure    
drug/toxin-induced aplastic anemia bone marrow failure defined as pancytopenia, due to exposure to a known toxin or drug    
dry eye a syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye    
dual oxidase 2 deficiency thyroid peroxidase system defect due to presumed mutation(s) in the duox2 gene, resulting in decreased activity of dual oxidase 2    
dubowitz score the numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant's gestational age and maturity    
ductus venosus agenesis congenital absence of the fetal ductus venosus    
duodenal atresia a congenital malformation characterized by the absence of a normal opening in a part of the duodenum    
duodenal band a pathologic fibrous band that impedes passage of intestinal contents through the duodenum    
duodenal stenosis narrowing of the lumen of the duodenum    
duodenal web partial or complete obstruction of the duodenal lumen due to the presence of a membranous web    
duodenostomy site a surgically created external opening into the duodenum    
duplex kidney a congenital abnormality of the kidney characterized by the presence of two separate pelvicocaliceal systems with a single or duplex ureter    
duplicated ureter a congenital abnormality characterized by the presence of two separate ureters draining a kidney    
duration of rupture of membranes duration from rupture of membranes to birth (in hours and minutes). (revitalize)]]    
dwarfism short stature that usually results from genetic mutations. Other causes include hormonal deficiencies and poor nutrition    
dyscalculia a wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties    
dysequilibrium syndrome a complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness    
dysesthesia distortion of a sense resulting in an abnormal and unpleasant sensation, usually described as burning, tingling, or numbness. Causes include lesions of the nervous system    
dysfibrinogenemia a coagulation disorder caused by abnormalities in fibrin that result in defective clot formation. This disorder may be inherited or acquired    
dysfunctional elimination syndrome fecal constipation or impaction resulting in bowel and bladder dysfunction    
dysfunctional labor uterine contractions (less than 3 in 10 minutes or inadequate strength) that do not result in progressive cervical dilation    
dysgerminoma a malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population.  the neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei.  the aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly t-lymphocytes.  it arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system.  it responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage    
dysgeusia persistence of unpleasant taste    
dyskinesia abnormality or impairment of voluntary movement    
dyslexia a learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension    
dysmenorrhea abnormally painful abdominal cramps during menstruation    
dysmyelination breakdown, or abnormal development, of a nerve fiber myelin sheath    
dysosmia abnormal sense of smell    
dyspepsia an uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease    
dysphagia a symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, parkinson disease, and multiple sclerosis    
dysphasia impairment of verbal communication skills, often resulting from brain damage    
dysphonia harsh and raspy voice secondary to laryngeal infection, voice overuse, irritants inhalation, vocal cord paralysis, vocal cord polyps, and malignant neoplasms arising from or spreading to the larynx    
dyspnea an uncomfortable sensation of difficulty breathing. It may present as an acute or chronic sign of an underlying respiratory or heart disorder    
dystonia a movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures    
dysuria pain or discomfort during urination    
ear dimple a pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention    
ear tag a small preauricular skin tag    
early adolescence a human life stage that begins at twelve years of age and continues until eighteen complete years of age. This phase marks the start of physical, physiological and psychological changes that characterize pubertal growth and development    
early childhood a human life stage that begins at two years of age and continues until five complete years of age    
early disseminated lyme disease an early stage of lyme disease that may present days to weeks after a tick bite with relapsing signs of a red, concentrically-expanding rash (erythema migrans), facial palsy, meningismus, neuralgia, heart palpitations, and dizziness    
early fetal death death of a fetus at 10 weeks, 0 days to 15 weeks, 6 days of gestation    
early fetal heart rate deceleration a gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds    
early infantile epileptic encephalopathy with burst-suppression a neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an eeg pattern of periods of low electrical brain activity interspersed with bursts of high spiky activity    
early inflammatory arthritis early stages of inflammatory arthritis, when the underlying diagnosis is uncertain, usually little or no joint damage has occurred. Treatment may alter the disease course (e.G., potentially avert progression to full ra or other diagnosis)    
early latent syphilis latent syphilis when infection was acquired less than twelve months previously    
early localized lyme disease an early stage of lyme disease that may present within 3-30 days after a tick bite with a red, concentrically-expanding rash (erythema migrans), fatigue, chills, fever, headache, muscle and joint aches, and swollen lymph nodes    
early myoclonic encephalopathy a neurologic disorder characterized by frequently recurring myoclonic seizures and other seizure types presenting within the first months of life    
early neonatal mortality death of a live newborn during the first 7 days of life    
early onset primary dystonia a genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions    
early postpartum hemorrhage cumulative blood loss of greater than or equal to 1000 ml or blood loss accompanied by signs or symptoms of hypovolemia within 24 hours following the birth process (includes intrapartum loss). (revitalize)]]    
early pregnancy loss pregnancy loss before 10th week of gestation with documentation of a confirmed pregnancy    
early prosthetic valve endocarditis prosthetic valve endocarditis that occurs days to weeks after surgery    
early relapse clinical and/or laboratory evidence of early reemergence of a disorder after a period of remission    
early relapse of acute lymphoblastic leukemia clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia less than 18 months (extramedullary) or 36 months (marrow) from diagnosis    
early rheumatoid arthritis recent diagnosis of rheumatoid arthritis (usually within one to two years of onset) during which treatment may be more effective and possibly improve the disease course    
early term birth birth at 37 weeks and 0 days through 38 weeks and 6 days    
easy bruising appearance of skin bruises following perceived minimal contact or injury    
eating disorder a broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake    
ebola a viral hemorrhagic fever that is caused by the ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate    
ebstein anomaly a rare congenital heart malformation characterized by apical displacement of the opening of the tricuspid valve. The defect involves both the right ventricle and the tricuspid valve, and can lead to cardiomyopathy and tachyarrhythmias    
ecchymosis extravasation of blood into the subcutaneous space    
echinococcosis a parasitic infection caused by tapeworm larvae of echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock    
echolalia a symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song    
eclampsia a potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures    
ectodermal dysplasia a group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands    
ectopic acth syndrome a syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (devita et al. Cancer, p 1364. 4th edition. Lippincott)]]    
ectopic atrial tachycardia a disorder characterized by an electrocardiographic finding of atrial tachycardia that does not originate from the sinoatrial node    
ectopic posterior pituitary atypically located posterior pituitary gland that may be associated with anterior or posterior pituitary hormone deficiencies    
ectopic pregnancy an abnormal pregnancy in which the conception is implanted outside the endometrial cavity    
ectopic thyroid gland location of the thyroid gland somewhere other than at the base of the neck    
ectopic ureter a congenital anomaly in which the ureteral orifice drains into an abnormal location    
ectopic ureterocele a ureterocele in which some portion of the ureterocele is situated permanently at the bladder neck or in the urethra. The orifice may be situated in the bladder, at the bladder neck, or in the urethra. (adapted from glassberg ki, braren v, duckett jw, jacobs ec, king lr, lebowitz rl et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J urol 1984; 132(6):1153-1154.)]]    
ectrodactyly a rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities    
eczema a form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent    
edema accumulation of an excessive amount of fluid in cells or intercellular tissues    
education level an indication of the years of schooling completed in graded public, private, or parochial schools, and in colleges, universities, or professional schools    
effusion a collection of fluid in a body cavity, which may be the result of a non-neoplastic disorder (e.G. Heart failure) or a tumor (e.G. Carcinoma of the lung)    
ehlers-danlos syndrome an inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility    
eiken type chondrodysplasia an autosomal recessive skeletal dysplasia caused by mutation(s) in the pth1r gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severely delayed skeletal maturation, as well as by abnormal modeling of the bones in the hands and feet, abnormal persistence of cartilage in the pelvis, and mild growth retardation. Calcium and phosphate concentrations are normal    
ejaculatory dysfunction a disorder referring to problems related to ejaculation. This category includes premature, delayed, retrograde, and painful ejaculation    
elective cesarean delivery a cesarean delivery scheduled at a patient's request or provider preference without medical or obstetric indications    
electrolyte disorder a metabolic disorder that is characterized by electrolyte imbalances (e.G., hyperkalemia, hypokalemia, and hypercalcemia)    
elevated blood pressure measurement an abnormally high blood pressure reading    
elevated serum alkaline phosphatase a laboratory test result which indicates an increased level of alkaline phosphatase in a biological specimen    
elevated test result a result of a test that is higher than a previous value or a normal range of values    
elliptocytosis a peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form    
embolism the blockage of a blood vessel lumen by air or solid material such as blood clot or other tissues (e.G., adipose tissue, cancer cells) that have migrated from another anatomic site    
embryonic loss pregnancy loss at 6 weeks, 0 days to 9 weeks, 6 days of gestation of an embryo with crown-rump length less than 10 mm and no cardiac activity visible on ultrasonogram    
embryonic stage a human life stage, during prenatal development, that begins at fertilization and typically continues until the end of eight weeks after fertilization, with full formation of the embryo    
emergency cesarean delivery a cesarean delivery that is not scheduled, planned or anticipated and is typically undertaken with short notice    
empty sella syndrome a syndrome characterized by flattening or regression of the pituitary gland within the sella turcica cavity, resulting in an mri image of an empty sella turcica. Signs and symptoms are secondary to pituitary gland hypofunction    
empyema an accumulation of pus in a body cavity, usually the pleural space    
enanthem an acute eruption of ulcerative lesions on the mucous membrane of the oropharynx    
encephalitis an inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes    
encephalocele a congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used    
encephalomalacia localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation    
encephalomyelitis inflammation of the brain and the spinal cord    
encephalopathy a functional and/or structural disorder of the brain caused by diseases (e.G. Liver disease, kidney disease), medications, chemicals, and injuries    
encephalopathy of prematurity a condition affecting premature infants characterized by white matter injury, which is frequently accompanied by neuronal/axonal disease, that may affect all brain parenchymal structures and is due to a combination of destructive processes as well as maturational and trophic disturbances    
encopresis an elimination disorder characterized by fecal incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs in someone who is toilet trained    
end-stage liver disease a disorder characterized by irreversible damage to the liver tissue, leading to complete liver failure. Causes include cirrhosis, viral hepatitis, metastases to the liver, genetic disorders, toxins, and drugs    
endemic cretinism severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency    
endemic typhus a bacterial infection caused by rickettsia typhi or rickettsia felis. It is transmitted to humans from infected rat fleas. Symptoms include fever, headache, joint and muscle pain, and weakness    
endocardial fibroelastosis a rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure    
endocarditis inflammation of the endocardium    
endocrine neoplasm a benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma    
endocrine system disorder a non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma    
endocrine system finding symptoms, physical examination results, and/or laboratory test results related to the endocrine system    
endogenous infection an infection caused by an infectious agent that is present on or in the host prior to the start of the infection    
endophthalmitis an infectious process affecting the internal structures of the eye    
endosteal hyperostosis an autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the sost gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis    
enlarged abdomen increasing girth of the mid section of an individual    
enophthalmos abnormal recession of the eyeball within the eye socket    
enteral tube feeding delivery of enteral nutrition via a tube placed into the stomach, duodenum, or jejunum    
enteric hyperoxaluria excessive urinary oxalate excretion resulting from increased absorption of oxalate    
enteritis inflammation of the small intestine    
enterobiasis an infection that is caused by the nematode enterobius vermicularis; it is characterized predominantly by perianal pruritus    
enterocolitis an inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use    
enterostomy prolapse an intestinal stoma complication characterized by protrusion of the intestine above the abdominal surface    
enterostomy site a surgically created external opening into the intestine    
enthesitis inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone    
enthesitis-related arthritis a category of juvenile idiopathic arthritis associated with arthritis and enthesitis, which may involve the axial skeleton. It is a form of juvenile spondyloarthritis    
enzyme deficiency a finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes    
eosinophilia abnormal high level of eosinophils in the blood    
eosinophilic fasciitis inflammation and induration of the fascia related to an accumulation of white blood cells, including eosinophils    
eosinophilic meningitis meningitis in which eosinophils predominate in the cerebrospinal fluid    
eosinophilopenia abnormally low level of eosinophils in the blood    
ependymoma a who grade ii, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (who)]]    
epidemic typhus a gram-negative bacterial infection caused by rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis    
epidermolysis bullosa an autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen vii or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids    
epidermolysis bullosa aquisita a chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes    
epidural block an anesthetic procedure that involves administering pharmaceutical agents into the epidural space of the spinal canal. Frequently administered agents include local anesthetics and analgesics    
epidural hematoma a collection of blood into the space between the dura mater and the skull    
epidural hemorrhage intracranial hemorrhage into the epidural space    
epigastric hernia protrusion of abdominal cavity contents or pre-peritoneal fat through the abdominal wall between the umbilicus and the xiphoid process    
epiglottitis inflammation of the epiglottis    
epilepsy a brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions    
epiphysiolysis abnormal separation of an epiphysis from the shaft of a bone    
episcleritis inflammation of the thin layer of tissue lining the sclera of the eye characterized by redness in the white portion of the eye    
episodic fetal heart rate pattern fetal heart rate patterns not associated with maternal uterine contractions    
epispadias a rare congenital abnormality that mostly affects males. In males, it is characterized by the presence of the urethral opening in the dorsal surface of the penis. In females, this abnormality is even rarer and is characterized by the presence of an elongated urethra that has developed too far anteriorly    
epistaxis bleeding from the nose    
epstein syndrome an autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the myh9 gene    
erb's palsy weakness or paralysis of muscles in the arm due to damage in the upper brachial plexus    
erectile dysfunction a disorder characterized by the persistent or recurrent inability to achieve or to maintain an erection during sexual activity    
erosion tearing or wearing off of skin    
erythema red discoloration of the skin caused by infectious agents, inflammation, drug hypersensitivity, or underlying disease    
erythema infectiosum a self-limited viral infectious disorder caused by the human parvovirus b19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern    
erythema migrans a red, concentrically-expanding rash sometimes with central clearing, that is part of the first stage of lyme disease caused by infection with borrelia species    
erythema multiforme a hypersensitivity reaction characterized by the sudden appearance of symmetrical cutaneous and mucocutaneous macular or papular lesions which evolve into lesions with bright red borders (target lesions). The lesions usually appear in the hands, feet, extremities, and face. Symptoms include fever, malaise, sore throat, cough, vomiting, diarrhea, arthralgia, and myalgia. Causes include infections (most commonly herpes simplex virus), drugs (e.G., sulfonamides, anticonvulsants, and antibiotics), malignancies, and collagen vascular disorders    
erythema toxicum neonatorum a benign, self-limited eruption of vesicles, pustules, papules and macules seen in newborns. An eosinophilic infiltrate can be isolated suggesting an immune-mediated reaction in the skin    
erythrocyte adenylate kinase deficiency an autosomal recessive disorder caused by mutation of the ak1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment    
erythrocyte enolase deficiency a rare, autosomal dominant, inherited disorder caused by mutation of the eno1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness    
erythrocyte sedimentation rate a quantitative measurement of the distance that red blood cells travel in one hour in a sample of unclotted blood    
erythrocytosis abnormally high level of red blood cells in the blood    
escobar syndrome a rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant    
esophageal atresia a congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed    
esophageal candidiasis esophagitis resulting from candida    
esophageal duplication a congenital abnormality characterized by the presence of a duplicated segment of the esophagus. The duplicated segment may by tubular or cystic    
esophageal dysphagia difficulty in swallowing due to an abnormality in the esophagus    
esophageal fistula an abnormal communication between the esophagus and another organ or anatomic site    
esophageal perforation the presence of a hole or other type of opening in the esophageal wall through which the contents of the esophagus can pass into the mediastinum. The most common cause of esophageal perforation is injury during a medical procedure such as esophagoscopy or placement of a naso-gastric tube; and pathologic process such as neoplasm or gastric reflux with ulceration. Less common causes include injuries from penetrating or blunt trauma or injury to the esophagus during an operation on another organ, mechanical problem such as violent retching or vomiting; ingestion of a foreign body or caustic agents. The condition often results in infection of the mediastinum and mediastinitis    
esophageal varices abnormally dilated veins of the esophagus    
esophageal web a thin membrane that is present in the esophageal lumen. It is composed of mucosa and submucosa and it may be associated with plummer-vinson syndrome    
esophagitis an acute or chronic inflammatory process affecting the esophageal wall    
essential thrombocythemia a chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (who, 2008)]]    
estimated due date the best estimated due date is determined by: last menstrual period (lmp) if confirmed by early ultrasound or no ultrasound performed, or early ultrasound if no known lmp or the ultrasound is not consistent with lmp, or known date of fertilization (e.G. Assisted reproductive technology (art), intrauterine insemination (iui)). Notes: 1. Ultrasound margin of error and "Early" to be defined by smfm/acog/nichd workshop. 2. Pregnancy should not be re-dated by a later ultrasound after a best obstetrical estimate of edd has been established. (adapted from revitalize)]]    
ethnic group a social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease    
euphoria an exaggerated feeling of well-being which is disproportionate to events and stimuli. It may result from psychological causes, organic brain syndromes, or toxic states    
european league against rheumatism classification criteria for juvenile chronic arthritis a set of antiquated criteria used to assign children with chronic arthritis to one of six mutually exclusive categories    
euthyroid condition derangement of the thyroid gland or thyroid hormone metabolism that is unaccompanied by signs or symptoms of hypothyroidism or hyperthyroidism    
euthyroid goiter sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy    
evaluation procedure systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria    
evans syndrome a rare, chronic and relapsing autoimmune disorder of unknown etiology, characterized by the presence of immune thrombocytopenia and autoimmune hemolytic anemia    
ewing sarcoma a small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms    
exanthem a widespread, acute rash    
excessive bleeding abnormally heavy or prolonged loss of blood    
excessive bruising bruising that is disproportionately high to the amount of trauma received or reported    
excessive sucking a symptom of gastrointestinal dysfunction seen in neonates who have been exposed to drugs during pregnancy; often accompanied by excessive sucking of fists, fingers and thumbs    
excessive weight gain in pregnancy in a woman with a normal weight pre-pregnancy body mass index (bmi), I.E. 18.5-24.9, the weight gained during pregnancy exceeds a total weight gain of 35 lbs. In a woman with an underweight pre-pregnancy body mass index (bmi), I.E. Less than 18.5, the weight gained during pregnancy exceeds a total weight gain of 40 lbs. In a woman with an overweight pre-pregnancy body mass index (bmi), I.E. 25.0-29.9, the weight gained during pregnancy exceeds a total weight gain of 25 lbs. In a woman with an obese pre-pregnancy body mass index (bmi), I.E. Greater than 30, the weight gained during pregnancy exceeds a total weight gain of 20 lbs. These standards are supported for the whole population irrespective of height, race or ethnicity    
excoriation self-inflicted tearing or wearing off of skin    
exfoliative dermatitis a generalized inflammatory cutaneous disorder characterized by erythema and desquamation    
exogenous obesity obesity caused by caloric intake greater than caloric expenditures    
exophthalmos the anterior displacement of the eye within the orbit, giving a bulging appearance    
exsanguination extensive loss of blood due to internal or external hemorrhage    
extended oligoarticular juvenile idiopathic arthritis oligoarticular juvenile idiopathic arthritis that eventually involves more than four separate joints    
extensively drug-resistant mycobacterium tuberculosis a strain of mycobacterium tuberculosis that is resistant to all of the following: isoniazid, rifampin, any of the fluoroquinolone antibiotics, and at least one of three injectable drugs (kanamycin, capreomycin, amikacin)    
extensively drug-resistant tuberculosis tuberculosis disease that is caused by an extensively drug-resistant strain of mycobacterium tuberculosis    
external compression headache headache resulting from pressure applied to the cutaneous nerves of the head    
external fetal heart rate monitoring a technique that utilizes a doppler transducer to monitor fetal heart rate. The transducer is placed on the maternal abdomen and detects fetal cardiac motion using ultrasound    
external hydrocephalus abnormal increase of cerebrospinal fluid in the subdural space of the brain    
extracorporeal circuit clot thrombus formation within an apparatus that carries blood outside of the body, such as pheresis, dialysis or extracorporeal membrane oxygenation (ecmo)    
extragonadal germ cell tumor a germ cell tumor arising in an anatomic site other than the testis or ovary (e.G., central nervous system, lung, mediastinum, and retroperitoneum)    
extramedullary involvement a finding indicating the involvement of sites other than the bone marrow by a hematopoietic neoplasm    
extraocular retinoblastoma retinoblastoma during childhood that has spread beyond the eye    
extraosseous calcification deposition of calcium in tissues outside of bone    
extrarenal rhabdoid tumor a rhabdoid tumor which arises in the soft tissues.  it occurs in infants and children and may be associated with loss of chromosome 22.  it is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm    
extremely low birth weight birth weight less than 1000 grams    
extremely preterm infant a newborn infant less than 28 weeks, 0 days gestational age    
eye discharge liquid exudate from the eye    
eye disorder a non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma    
eye finding symptoms, physical examination results, and/or laboratory test results related to the eye    
eye prophylaxis the practice of placing antibiotic eye drops or ointment in a neonate's eyes after birth    
eye redness the prominence of the superficial vessels of the sclera or conjunctiva resulting in a red or pink appearance    
fabry disease a rare x-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase a. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure    
face presentation a fetal presentation during delivery in which the face of the fetus is first to descend into the birth canal    
facial nerve palsy partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur    
facial nerve palsy related to birth a condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve sustained during the birthing process    
facial nerve palsy related to trauma partial or complete paralysis of the facial muscles of one side of an individual's face that is caused by trauma    
factor I deficiency a usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding    
factor I inactivation presence of inactivating antibodies to fibrinogen (factor I) in the blood    
factor ii deficiency a coagulation disorder characterized by the partial or complete absence of prothrombin (factor ii) activity in the blood    
factor ii inactivation presence of inactivating antibodies to prothrombin (factor ii) in the blood    
factor iii inactivation presence of inactivating antibodies to tissue factor (factor iii) in the blood    
factor ix inactivation presence of inactivating antibodies to factor ix in the blood    
factor v deficiency a coagulation disorder characterized by the partial or complete absence of factor v activity in the blood    
factor v inactivation presence of inactivating antibodies to factor v in the blood    
factor v leiden an abnormality that refers to mutation of factor v leiden, which is a variant of human factor v. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage    
factor vii deficiency a coagulation disorder characterized by the partial or complete absence of factor vii activity in the blood    
factor vii inactivation presence of inactivating antibodies to factor vii in the blood    
factor viii inactivation presence of inactivating antibodies to factor viii in the blood    
factor x deficiency a coagulation disorder characterized by the partial or complete absence of factor x activity in the blood    
factor x inactivation presence of inactivating antibodies to factor x in the blood    
factor xi deficiency a coagulation disorder characterized by the partial or complete absence of factor xi activity in the blood    
factor xi inactivation presence of inactivating antibodies to factor xi in the blood    
factor xii deficiency a coagulation disorder characterized by the partial or complete absence of factor xii activity in the blood. It is not associated with increased bleeding risk    
factor xii inactivation presence of inactivating antibodies to factor xii in the blood    
factor xiii deficiency a coagulation disorder characterized by the partial or complete absence of factor xiii activity in the blood    
factor xiii inactivation presence of inactivating antibodies to factor xiii in the blood    
failure of catch-up growth failure to achieve a linear growth rate sufficient to restore height to within the normative range for the reference population    
fall a sudden movement downward, usually resulting in injury    
familial atypical hemolytic uremic syndrome hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria    
familial cold autoinflammatory syndrome an autoinflammatory disease caused by mutations in the nlrp3 gene which encodes cryopyrin. It is characterized by short episodes of fever, rash, and arthralgia after exposure to cold or rapid decrease in temperature    
familial dysalbuminemic hyperthyroxinemia a genetic condition caused by a variant in the alb gene, associated with increased affinity of albumin for thyroxine    
familial glucocorticoid deficiency type 1 familial glucocorticoid deficiency caused by mutation(s) in the mc2r gene encoding the adrenocorticotropin (acth) receptor, also known as the melanocortin-2 receptor    
familial glucocorticoid deficiency type 2 familial glucocorticoid deficiency caused by mutation(s) in the mrap gene encoding the melanocortin-2 receptor accessory protein    
familial glucocorticoid deficiency type 3 a variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia    
familial glucocorticoid deficiency type 4 familial glucocorticoid deficiency caused by mutation(s) in the nnt gene encoding nicotinamide nucleotide transhydrogenase    
familial hemiplegic migraine a migraine disorder characterized by individual and family history of aura that includes motor weakness    
familial hyperaldosteronism a heritable form of hyperaldosteronism    
familial hyperaldosteronism type 1 familial hyperaldosteronism caused by a chimeric gene containing regions of cyp11b1 and cyp11b2. This condition is responsive to exogenous glucocorticoids    
familial hyperaldosteronism type 2 familial hyperaldosteronism unresponsive to glucocorticoid therapy. The molecular basis for this condition has not been fully elucidated    
familial hyperaldosteronism type 3 familial hyperaldosteronism caused by a mutation in the kcnj5 gene, which encodes the inwardly rectifying potassium channel. This condition, characterized by hypokalemia and severe hypertension, presents during early childhood, and is unresponsive to glucocorticoid therapy    
familial hypercalciuric hypocalcemia a hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hypersensitivity, and compensatory hypocalcemia and hypercalciuria    
familial hypocalciuric hypercalcemia a hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and hypocalciuria    
familial idiopathic short stature idiopathic short stature in a child when either one or both parents is short in stature    
familial idiopathic tall stature idiopathic tall stature in a child when either one or both parents is tall in stature    
familial isolated hyperparathyroidism a rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors    
familial male precocious puberty early development of isosexual secondary characteristics in boys, due to autosomal dominant mutations in the lhcgr gene    
familial mediterranean fever a usually autosomal recessive inherited inflammatory disorder caused by mutations in the mefv gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and chest. The inflammatory attacks are associated with fever    
familial primary hypomagnesemia a hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration    
fanconi anemia an autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increase incidence of development of neoplasias    
fanconi syndrome a genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients    
fasciculation the involuntary trembling of one or more muscles    
fasciitis inflammation process in fascia    
fasciolopsiasis a small bowel infection that is caused by fasciolopsis buski, which is endemic in the far east and southeast asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from  asymptomatic to intestinal symptoms from local invasion or allergic response    
fasciolosis a parasitic infection that is caused by liver flukes, usually fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). Adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction    
fat adherence syndrome violation of tenon's capsule with prolapse of orbital fat into the sub-tenon's space    
fatigue overall tiredness and lack of energy    
febrile seizure a seizure occurring in infants and young children that occurs in the setting of fever    
fecal incontinence involuntary passage of stool from the rectum    
fecal-oral transmission the transmission of an infectious agent to a host's oral cavity via the fecal particles of another living organism    
fechtner syndrome an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the myh9 gene    
feeding intolerance inability to achieve a full feeding volume    
feeding method a description of the technique for the manner in which a subject is administered food    
feeding tube a tube directed into the stomach, duodenum or jejunum from the nose, mouth or through the skin, for the purposes of delivering nutrition    
feeding tube complication any problem with a feeding tube or its site of insertion    
female a person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both    
female reproductive system disorder a non-neoplastic or neoplastic disorder that affects the female genital system. Representative examples of non-neoplastic disorders include infection, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma    
feminization in boys the development of secondary female sex characteristics in males    
femur fracture a traumatic or pathologic injury to the femur in which the continuity of the femur is broken    
fetal acidemia an abnormally high hydrogen ion concentration (umbilical arterial blood ph less than 7.00) in fetal blood or tissue    
fetal alcohol spectrum disorder a group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues    
fetal alcohol syndrome a teratogenic disorder observed in a newborn or child of a mother who consumed alcohol during pregnancy. Manifestations of the syndrome include low birth weight, atypical facies, microcephaly, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, poor motor coordination and behavioral problems    
fetal arrhythmia a variation from the normal heart rhythm in a fetus    
fetal assessment any test to determine the fetal status, such as ultrasound or fetal heart rate monitoring    
fetal biophysical profile a test of fetal well-being performed using a combination of ultrasound parameters (fetal movement, fetal tone, fetal breathing, amniotic fluid) and a non-stress test (nst)    
fetal blood loss loss of blood from the fetal circulation    
fetal bradyarrhythmia an abnormality in the fetal heart rhythm associated with a decrease in fetal heart rate below 110 beats per minute    
fetal bradycardia a fetal heart rate below 110 bpm that is sustained for longer than 10 minutes    
fetal chorionic vasculitis a neutrophilic infiltrate arising from fetal vessels in the chorionic plate and oriented towards the amniotic cavity    
fetal circulation with increased nucleated erythrocytes increased nucleated red blood cells within the fetal circulation    
fetal death death of a fetus after 10 weeks gestation    
fetal disorder a non-neoplastic or neoplastic disorder which occurs in the fetus    
fetal doppler velocimetry an antenatal ultrasonographic method that measures blood flow velocity through either maternal or fetal vessels    
fetal echocardiography an antenatal ultrasonographic procedure used to evaluate the structure and function of the fetal heart    
fetal fibronectin test a test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth    
fetal finding any intrauterine symptom or result related to the fetus    
fetal heart deceleration a decrease in the fetal heart rate that has a duration of less than 10 minutes    
fetal heart finding an observation of the fetal heart that may or may not be abnormal    
fetal heart rate the number of fetal cardiac beats per minute    
fetal heart rate acceleration an abrupt increase is defined as an increase from the onset of acceleration to the peak in less than 30 seconds. To be called an acceleration, the peak must be greater than or equal to 15 bpm, and the acceleration must last greater than or equal to 15 seconds from the onset to return to baseline    
fetal heart rate monitoring the act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings    
fetal heart rate variability fluctuations in the baseline fetal heart rate, determined in a 10 minute window while excluding accelerations and decelerations. They are irregular in amplitude and frequency and are visually quantitated as the amplitude of the peak to trough in beats per minute. Sinusoidal patterns are also excluded    
fetal heart rhythm the recurrent, measured movements (rhythm) of a beating heart in a fetus    
fetal heart tone the sounds of the fetal heart    
fetal heart tone location the site of fetal cardiac sounds that can be distinctly detected in relation to the maternal abdomen    
fetal hydantoin syndrome a teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development    
fetal hypoxemia abnormally low arterial blood oxygen concentration in a fetus    
fetal hypoxia hypoxia in utero, caused by conditions such as inadequate placental function (often abruptio placentae), preeclamptic toxicity, prolapse of the umbilical cord, or complications from anesthetic administration    
fetal large for gestational age a fetus exceeding 90% of expected weight for gestational age    
fetal macrosomia a fetus exceeding 4500 grams    
fetal malpresentation any presentation other than a vertex presentation. (revitalize)]]    
fetal methotrexate syndrome a teratogenic disorder observed in a newborn or child of a mother who was exposed to methotrexate during pregnancy. Manifestations of the syndrome include craniofacial, digital, and skeletal malformations    
fetal neurodevelopmental disorder a fetal affliction that has a neurological basis and manifests as a developmental disability    
fetal pulse oximetry a method to assess fetal oxygenation status during labor and delivery using a noninvasive reflectance pulse oximeter    
fetal restitution the repositioning of the fetal head attitude immediately after delivery, returning to a normal position in alignment with the rest of its body    
fetal retinoid syndrome a teratogenic disorder observed in a newborn or child of a mother who was exposed to retinoids during pregnancy. Manifestations include growth delay, skull, facial, heart, and central nervous system malformations    
fetal scalp sampling a technique used to evaluate fetal acid-base status during labor by obtaining a capillary blood specimen from the fetus    
fetal small for gestational age with abdominal circumference less than tenth percentile a fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and whose abdominal circumference falls below the tenth percentile    
fetal small for gestational age with abnormal dopplers a fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and has abnormal doppler studies    
fetal small for gestational age with oligohydramnios a fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and shows evidence of oligohydramnios    
fetal stage a human life stage, during prenatal development, that typically begins at the beginning of nine weeks after fertilization (full formation of the embryo) and continues until birth    
fetal stem vessel thrombus a focus of thrombus adhered to the wall of a fetal stem vessel. It can be completely or partially obstructive and may lead to avascular villi    
fetal stem vessel thrombus with or without dystrophic calcification a focus of thrombus adhered to the wall of a fetal stem vessel. It can be completely or partially obstructive and may lead to downstream villous injury and calcification    
fetal tachyarrhythmia an abnormality in the fetal heart rhythm associated with an increase in fetal heart rate above 160 beats per minute    
fetal tachycardia a fetal heart rate above 160 bpm that is sustained for longer than 10 minutes    
fetal valproate syndrome a teratogenic disorder observed in a newborn or child of a mother who was exposed to valproic acid during pregnancy. Manifestations include musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features    
fetal virilization inappropriate secondary sex characteristics in the neonate usually due to in utero androgen exposure    
fetal warfarin syndrome a teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly    
fetal-maternal hemorrhage loss of fetal blood into the maternal circulation    
fetus an unborn or unhatched vertebrate in the later stages of development showing the main recognizable features of the mature being    
fetus small for gestational age a fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age    
fever elevation of body temperature above normal due to inflammatory or immune responses    
fibrodysplasia ossificans progressiva a condition in which there is progressive heterotopic bone formation of the tendons and muscles    
fibromyalgia a chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation    
fibrosarcoma a malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone    
fibula fracture a traumatic or pathologic injury to the femur in which the continuity of the fibula is broken    
filamentous fungus a very large group of microscopic fungi that live on plant or animal matter. Most are filamentous organisms and produce spores that can be air-, water-, or insect-borne    
filariasis infection by filarial worms    
finding clinical, laboratory or molecular evidence, or absence of evidence of disease    
fine motor delay delayed acquisition of age appropriate motor milestones that produce small and precise movements    
finnegan score measurement a tool to evaluate neonatal abstinence syndrome (nas), that measures the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse    
first degree burn a painful injury to the epidermis due to chemical, friction, radiation or thermal exposure. The affected area appears red and blanches when touched    
first degree perineal laceration injury to perineal skin only. (revitalize)]]    
first feeding the first time that a neonate is provided nutrition    
first relapse the reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following a single documented period of remission    
first trimester antepartum hemorrhage excessive blood loss within the first trimester but prior to onset of labor    
fisher syndrome an autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia    
fissuring a narrow break in the skin    
fistula abnormal epithelial-lined communication between two anatomical structures    
fistula discharge the leakage of a substance from a fistula    
five minutes after birth the actual time that is five minutes after the birth of a fetus. This period is most commonly referenced during the administration of the apgar test    
fixed drug eruption round areas of red-purple reaction in the skin that result after drug exposure; these recur in the same location when the medication is readministered    
flat affect the absence of emotional expressiveness    
flatulence a state of excessive gas in the alimentary canal    
flight of ideas rapid succession of thoughts pertaining to different subjects that are still connected    
floaters spots before the eyes caused by opaque cell fragments in the vitreous humor or lens    
floppy infant a syndrome of generalized poor muscle tone and muscle weakness presenting in a newborn infant    
flt3 internal tandem duplication a genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the flt3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis    
flt3-internal tandem duplication high allelic ratio a molecular genetic finding in acute myeloid leukemias indicating that flt3-internal tandem duplication (flt3-itd) is the dominant lesion, and which is present in the majority or all of the leukemic cells    
flu-like symptoms complaints describing a pattern similar to influenza, which may include one or more of the following symptoms: fever, chills, muscle or body aches, cough, sore throat, rhinitis, or fatigue    
flushing reddening of the skin from a transient increase in blood flow    
focal and segmental proliferative glomerulonephritis glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern    
focal katp-associated hyperinsulinism katp-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the abcc8 or the kcnj11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome    
focal lipodystrophy loss of subcutaneous fat confined to small area(s) of the body    
focal segmental glomerulosclerosis a renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure    
focal segmental glomerulosclerosis cellular variant a variant of fsgs characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing fsgs. (d'agati vd, et al. "Pathologic classification of focal segmental glomerulosclerosis: a working proposal." am j kidney dis 43.2 (2004): 368-82.)]]    
focal segmental glomerulosclerosis collapsing variant a variant of fsgs characterized by glomerular tuft collapse, which may result in scarring. (d'agati vd, et al. "Pathologic classification of focal segmental glomerulosclerosis: a working proposal." am j kidney dis 43.2 (2004): 368-82.)]]    
focal segmental glomerulosclerosis perihilar variant a variant of fsgs characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing fsgs. (d'agati vd, et al. "Pathologic classification of focal segmental glomerulosclerosis: a working proposal." am j kidney dis 43.2 (2004): 368-82.)]]    
focal segmental glomerulosclerosis tip lesion variant a variant of fsgs characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar fsgs. (d'agati vd, et al. "Pathologic classification of focal segmental glomerulosclerosis: a working proposal." am j kidney dis 43.2 (2004): 368-82.)]]    
focal segmental glomerulosclerosis, not otherwise specified segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the not otherwise specified classification excludes fsgs tip, perihilar, collapsing, and cellular variants. (d'agati vd, et al. "Pathologic classification of focal segmental glomerulosclerosis: a working proposal." am j kidney dis 43.2 (2004): 368-82.)]]    
focal seizure a transitory alteration in movement, sensation or autonomic nerve function due to abnormal electric activity in a localized area of the cerebral cortex, usually without change in awareness or alertness. Symptoms vary with different lesion locations and may include but not limited to the motor (e.G. Rhythmic muscle contractions in one area of the body), somatosensory and sensory alterations manifested by abnormal numbness, paresthesias or other hallucinations, including several types of aura; autonomic and psychic symptoms, e.G. With changes in speech, thought, personality, mood, sensation of deja vu or hallucinations    
follicle stimulating hormone deficiency subnormal concentration of follicle stimulating hormone    
follicle stimulating hormone receptor deficiency reduced or absent function of the receptor for follicle stimulating hormone associated with a mutation in the fshr gene    
follicle stimulating hormone-producing adenoma an adenoma of the anterior lobe of the pituitary gland that produces follicle-stimulating hormone (fsh)    
follicular thyroid carcinoma a differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  the nuclear features which characterize the thyroid gland papillary carcinoma are absent.  radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers.  clinically, it usually presents as a solitary mass in the thyroid gland.  it is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels.  diagnostic procedures include thyroid ultrasound and fine needle biopsy    
follicular thyroid tumor a non-invasive neoplasm of thyroid follicular cells with a follicular growth pattern and nuclear features of papillary thyroid carcinoma that has an extremely low malignant potential. These tumors were formerly classified as non-invasive encapsulated follicular variant of papillary thyroid carcinoma or well-differentiated tumor of uncertain malignant potential. (who 2017)]]    
folliculitis inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds    
fontanel depressed membranous areas between cranial bones in a newborn that appear depressed or sunken    
fontanelle the four gaps in the skull of a neonate or fetus where the sutures converge. The bulging or depression of the membranous soft spots can be indicative of intracranial fluid buildup or systemic dehydration    
fontanelle bulging membranous areas between cranial bones in a newborn that appear elevated or full    
foodborne botulism botulism that is caused by consuming food or beverage that contains the botulinum toxin    
foodborne illness any disorder that results from the consumption of food contaminated with an infectious agent or toxin    
forceps assisted vaginal delivery application of forceps to the fetal head to facilitate vaginal birth    
forceps injury birth injury sustained during a forceps-assisted delivery    
foreign body ingestion the swallowing of an item not intended for consumption    
fourth degree perineal laceration injury to perineum involving anal sphincter complex and internal anal sphincter and anal epithelium. (revitalize)]]    
fracture a traumatic injury to the bone in which the continuity of the bone is broken    
fracture of clavicle related to birth an injury sustained during the birthing process in which the continuity is broken in the clavicle    
fracture of femur related to birth a broken femur sustained during the birthing process    
fracture of humerus related to birth a broken humerus sustained during the birthing process    
fracture of long bone related to birth an injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width    
fracture of nose related to birth a broken nasal bone sustained during the birthing process    
fracture of radius related to birth a broken radius sustained during the birthing process    
fracture of skull related to birth an injury sustained during the birthing process in which the continuity is broken in the skull    
fracture of spine related to birth a broken vertebra sustained during the birthing process    
fracture of ulna related to birth a broken ulna sustained during the birthing process    
fracture related to birth a broken bone sustained during the birthing process    
fragile x syndrome a genetic syndrome caused by mutations in the fmr1 gene which is responsible for the expression of the fragile x mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities    
frank umbilical cord prolapse a situation in which the umbilical cord is prolapsed through the cervix and into the vagina    
frasier syndrome a condition, which typically presents during adolescence, that is caused by wt-1 mutation, and is characterized by a developmental sex disorder, fsgs, and may be associated with gonadoblastoma    
freeman-sheldon syndrome a rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the myh3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties    
frenulum a small fold of tissue that limits the movements of an organ or body part; for example, the lingual frenulum connects the tongue to the floor of the mouth and restrains its movement    
fryns syndrome a rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations    
fucosidosis an autosomal recessive lysosomal storage disease characterized by a defective alpha-l-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances    
full term birth birth at 39 weeks and 0 days through 40 weeks and 6 days    
full term neonatal stage a human life stage that begins at full term birth and continues until twenty-seven complete days of age    
functional hearing loss hearing loss in the absence of auditory system pathology    
functional intestinal obstruction the blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular    
functional pituitary macroadenoma a pituitary gland macroadenoma associated with a hormonal syndrome    
functional pituitary microadenoma a pituitary gland microadenoma associated with a hormonal syndrome    
fungal infection an infection caused by a fungus    
fungal keratitis keratitis caused by fungi    
fungal pericarditis pericarditis that is caused by an infection with a fungal agent    
fungus a kingdom of eukaryotic, heterotrophic organisms that live as saprobes or parasites, including mushrooms, yeasts, smuts, molds, etc. They reproduce either sexually or asexually, and have life cycles that range from simple to complex. Filamentous fungi refer to those that grow as multicellular colonies (mushrooms and molds)    
funic presentation the positioning of the umbilical cord before the main presenting part of the fetus    
funisitis an acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid    
fused eyelid a congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue    
fused placenta in pregnancies with more than one fetus, the composite structure that results from the growth of two (or more) placental chorionic discs such that the placental masses abut one another and are delivered as a single unit but can manually separated into individual units    
fusion-negative alveolar rhabdomyosarcoma an alveolar rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of pax7-foxo1 or pax3-foxo1 gene fusion    
fusion-positive alveolar rhabdomyosarcoma an alveolar rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in pax7-foxo1 gene fusion; or translocation t(2;13)(q35;q14) that results in pax3-foxo1 gene fusion.  approximately 80% of alveolar rhabdomyosarcomas are fusion-positive    
gagging the sudden, coordinated, involuntary contraction of pharyngeal muscles in an attempt to prevent any matter from passing into the posterior pharynx; it is stimulated by touching the posterior palate, tongue, or pharynx, or by psychic stimuli    
gait unsteady a shaky or wobbly manner of walking    
galactorrhea excessive secretion of breast milk    
galactose measurement the measurement of the amount of galactose in a biologic specimen    
galactose-1-phosphate uridyltransferase measurement the measurement of the galactose-1-phosphate uridyltransferase in a biologic specimen    
galactosemia an autosomal recessive inherited metabolic disorder caused by mutations in the gale, galk1, and galt genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure    
galeazzi test an assessment for developmental dysplasia of the hip or a leg-length discrepancy, the patient is placed in a supine position and the ankles are brought to the buttocks with the hips and knees flexed. The result is considered positive when the knees are at different heights    
gamma-delta t-cell depletion restriction of the t-cell population in stem cell transplants to those expressing only the alpha-beta receptor    
gangrenous umbilical hernia a protrusion of necrotic tissue through the abdominal wall under the skin near the umbilicus    
gasping syndrome a syndrome in preterm neonates exposed to benzyl alcohol preservative in intravascular solutions that is characterized by unremitting gasping respirations and may include anion gap metabolic acidosis, neurologic deterioration, renal failure, convulsions, intraventricular hemorrhage, and cardiovascular collapse    
gastritis inflammation of the stomach    
gastroenteritis an inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting    
gastroesophageal reflux effortless regurgitation of gastric contents that commonly occurs in infants, usually right after feeding or burping    
gastroesophageal reflux disease a chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa    
gastrointestinal bleed bleeding originating from any part of the gastrointestinal tract    
gastrointestinal disorder a non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas    
gastrointestinal fistula an abnormal communication between any part of the digestive system and another organ or cavity    
gastrointestinal perforation a rupture in the wall of any structure of the digestive system caused by traumatic or pathologic processes    
gastrointestinal system signs and symptoms signs and symptoms associated with disturbances within the digestive system, which includes the stomach, intestines and all associated organs that aid in digestion    
gastroparesis paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine    
gastroschisis a congenital birth defect characterized by the exposure of the fetal intestines outside the abdominal wall through an abdominal wall opening    
gastrostomy site a surgically created external opening into the stomach    
gaucher disease an inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia    
general anesthesia procedure actions that render a patient unconscious for the purpose of performing a diagnostic or interventional procedure    
general appearance the result of observation and overall assessment of a subject's outward aspect including appearance and movements; for example, in a human newborn general appearance includes skin color and tone, range of motion, and spontaneous movements    
generalized anxiety disorder an anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months    
generalized lipodystrophy almost complete absence of subcutaneous and/or visceral adipose tissue    
generalized morphea a type of morphea characterized by four or more plaques found in two or more anatomic locations. The plaques are indurated, generally well-delineated, and may include muscle atrophy in affected areas; there is no visceral involvement    
generalized thyroid hormone resistance decreased response to thyroid hormones in peripheral tissues and in the pituitary gland    
genetic disorder genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders    
genetic testing the process of isolating and testing the dna of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder    
genital herpes herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus    
genu recurvatum an abnormal alignment of the knee backwards that is due to a deformity in the knee joint    
germ cell tumor a benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor    
germinal matrix hemorrhage of newborn bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles of a newborn    
germinoma a malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes    
germinomatous germ cell tumor a term that refers to germinoma, seminoma, or dysgerminoma    
gesell developmental schedule a scale used as an instrument to assess a child's motor and language development, as well as personal-social and adaptive behaviors    
gestational age gestational age (written with both weeks and days, e.G. 39 weeks and 0 days) is calculated using the best obstetrical estimated due date (edd) based on the following formula: gestational age = (280 - (edd - reference date))/ 7. Note: reference date is the date on which you are trying to determine gestational age. (revitalize)]]    
gestational diabetes mellitus carbohydrate intolerance first diagnosed during pregnancy    
gestational diabetes mellitus, a1 carbohydrate intolerance first diagnosed during pregnancy. Diagnosis from abnormal oral glucose tolerance test (ogtt) but normal glucose levels when fasting and two hours post-prandial. Euglycemia achieved with diet and/or exercise    
gestational diabetes mellitus, a2 carbohydrate intolerance first diagnosed during pregnancy. Diagnosis from abnormal oral glucose tolerance test (ogtt) and abnormal fasting or post-prandial glucose levels. Euglycemia achieved with medication    
gestational hypertension a blood pressure elevation after 20 weeks of gestation in the absence of either proteinuria or systemic findings like thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema or the new-onset of cerebral or visual disturbances    
gingivitis a disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth    
gitelman syndrome an inherited disorder caused by mutations in the slc12a3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia    
glanders a condition resulting from infection by burkholderia mallei, which mainly affects horses    
glanzmann thrombasthenia a rare, autosomal recessive inherited and less frequently acquired platelet disorder. It is characterized by deficient or dysfunctional glycoprotein iib/iiia complex. It leads to defective platelet aggregation, resulting in bleeding    
glaucoma increased pressure in the eyeball due to obstruction of the outflow of aqueous humor    
glioma a benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas    
globus persistent or intermittent non-painful sensation of a lump or foreign body in the throat occurring between meals in the absence of dysphagia, odynophagia, evidence of gastroesophageal acid reflux, or histopathogically based esophageal motility disorders    
glomerulocystic disease a condition characterized by dilatation of the bowman space and affecting more than 5% of the glomeruli    
glomerulomegaly glomerular enlargement greater than the fiftieth percentile    
glomerulonephritis a renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies    
glomerulopathy chronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins    
glomerulosclerosis a hardening of the kidney glomerulus caused by scarring of the blood vessels    
glossitis inflammation of the tongue    
glucagon deficiency impaired pancreatic secretion of glucagon that results in severely low blood glucose    
glucocorticoid a corticosteroid that supports a variety of cardiovascular, metabolic, immunologic, and homeostatic functions, and which binds specifically to the glucocorticoid receptor (gr; nr3c1). Glucocorticoid binding to gr leads to the transportation of the activated receptor-glucocorticoid complex to the nucleus, after which it binds to glucocorticoid response elements (gre) and regulates the expression of gr-responsive genes    
glucocorticoid resistance an autosomal dominant condition due to mutation(s) in the nr3c1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (hpa) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare    
glucocorticoid suppressible hyperaldosteronism excessive production of aldosterone and elevation of blood pressure by the adrenal gland, which is regulated by corticotropin    
glucokinase-associated diabetes mellitus monogenic diabetes caused by inactivating mutation(s) in the gck gene, encoding glucokinase. Heterozygous gck mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous gck mutations result in permanent neonatal diabetes   maturity-onset diabetes of the young, type 2]]
glucokinase-associated hyperinsulinism hyperinsulinism due to activating mutation(s) in the gene gck, encoding glucokinase    
glucose intolerance the inability to regulate blood glucose levels resulting in hyperglycemia    
glucose phosphate isomerase deficiency a rare, autosomal recessive, inherited disorder caused by mutation of the gpi gene. It is characterized by chronic, non-spherocytic hemolytic anemia    
glucose-6-phosphate dehydrogenase deficiency an x-linked recessive inherited disorder caused by mutations in the g6pd gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs    
glutamate dehydrogenase 1 hyperinsulinism hyperinsulinism due to activating mutation(s) in the glud1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney    
glutaric aciduria, type 1 a rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-coa dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia    
glutaric aciduria, type 2 a rare autosomal recessive inherited metabolic disorder caused by mutations in the etfa, etfb, or etfdh genes. It is characterized by deficiency of either electron transfer flavoprotein (etf) or electron transfer flavoprotein dehydrogenase (etfdh). Clinical presentations include congenital abnormalities (brain and facial malformations), hypotonia, dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral changes    
glycine encephalopathy an autosomal recessive metabolic disorder caused by mutations in the amt and gldc genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures    
glycogen storage disease an inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues    
glycogen storage disease type vii a rare, autosomal recessive inherited metabolic disorder caused by mutation in the pfkm gene. It results in the deficiency of the m subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness    
gnathostomiasis an infection that is caused by nematodes of the genus gnathostoma, which is commonly found in southeast asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.G., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia)    
goiter enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing    
goldenhar syndrome a congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate    
gonadal agenesis a congenital disorder characterized by the complete absence of gonadal tissue    
gonadal disorder a non-neoplastic or neoplastic disorder that affects the testis or the ovary    
gonadal dysgenesis a congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics    
gonadal teratoma a teratoma that arises from the testis or ovary    
gonadoblastoma a mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype    
gonadotropin-dependent precocious puberty premature onset of sexual development triggered by the premature secretion of gonadotropins    
gonadotropin-independent precocious puberty premature development of secondary sexual characteristics due to the presence of sex steroids independent of pituitary gonadotropin release    
gonadotropin-producing adenoma an adenoma of the anterior lobe of the pituitary gland that produces gonadotrophic hormones (fsh and/or lh) or shows evidence towards gonadotroph differentiation.  the majority of cases are hormonally non-functional.  clinical manifestations include visual disturbances, hypopituitarism, headache, and acute hemorrhagic necrosis of the pituitary gland    
gonadotropin-resistant ovary syndrome ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova   savage syndrome]]
gonococcal conjunctivitis inflammation of the conjunctiva in a newborn due to neisseria gonorrhoeae which was acquired during labor and delivery    
gonococcal urethritis inflammation of the urethra secondary to infection with neisseria gonorrhoeae; this infection is spread through sexual contact    
gonorrhea a common sexually transmitted bacterial infection caused by neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease    
grade I vesicoureteral reflux vesicoureteral reflux in which there is urine reflux into the ureter only    
grade ii vesicoureteral reflux vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces    
grade iii vesicoureteral reflux vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present    
grade iv vesicoureteral reflux vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present    
grade v vesicoureteral reflux vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present    
graft versus host disease a reaction, which may be fatal, in an immunocompromised subject (host) who has received an antigenically incompatible tissue transplant (graft) from an immunocompetent donor. The reaction is secondary to the activation of the transplanted cells against those host tissues that express an antigen not expressed by the donor, and is seen most commonly following bone marrow transplantation; acute disease is seen after 5-40 days, and chronic disease occurs weeks to months after transplantation    
gram the metric unit of mass equal to one thousandth of a kilogram. One gram equals approximately 15.432 grains or 0.035 273 966 ounce    
granuloma an inflammatory reaction usually caused by infectious organisms, foreign bodies, or cholesterol deposits. It is characterized by the presence of epithelioid histiocytes and chronic inflammation    
granulomatosis with polyangiitis a rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis    
granulosa cell tumor a slow-growing, malignant tumor, characterized by the presence of granulosa-like cells and call-exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle.  there are two types of granulosa cell tumors that can be distinguished under the microscope: the adult and the juvenile.  the testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms    
grasp reflex an involuntary, primal response in the neonate to grasp the fingers when their palm is touched. This reflex is present until six months of age    
graves disease hyperthyroidism associated with diffuse hyperplasia of the thyroid gland (goiter), resulting from production of antibodies that are directed against the thyrotropin receptor complex of the follicular epithelial cells. As a result, the thyroid gland enlarges and secrets increased amounts of thyroid hormones    
gravida a woman who currently is pregnant or has been in the past, irrespective of the pregnancy outcome    
gray baby syndrome a disorder observed in a newborn who was exposed to chloramphenicol. Manifestations include hypotension, cyanosis, cardiovascular collapse and/or death    
gray platelet syndrome a rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets    
great blood vessel any of the major arteries or veins attached to the cardiac atria or ventricles. This includes the aorta, superior and inferior vena cava and the pulmonary arteries and veins    
great vessels abnormality a congenital vascular abnormality that affects the great vessels and/or aortic arch. Representative examples include double aortic arch, aortic coarctation, and absence of a pulmonary artery    
green fetal membranes meconium staining of the fetal membrane    
gross abruption a separation of the placenta from the uterine wall that is manifested by a retroplacental hematoma with villous compression and change in villous coloration that is reflective of lesion age    
gross hematuria the visible presence of blood in the urine    
gross motor delay abnormally late development of the coordination of the muscles, bones, and/or nerves that produces whole body and large muscle group movements    
gross total resection surgical removal of an entire visible lesion, with no obvious lesion detected on post-operative evaluation; microscopic residual disease may be present    
group b streptococcal infection group b streptococcus, also known as streptococcus agalactiae, colonizes the vaginal and gastrointestinal tracts of up to 45% of healthy women and may infect neonates in utero or during delivery, causing neonatal sepsis in 1-2% of colonized neonates. Gbs infection may also occur in nonpregnant (particularly elderly) adults with underlying medical conditions, presenting as urinary tract infection, pneumonia, or soft-tissue infection    
group b streptococcal infection, early-onset infection of an infant from birth to less than seven days of life caused by group b streptococcus (streptococcus agalactiae) from a colonized mother    
group b streptococcal infection, late-onset infection of an infant from seven days to three months of life caused by group b streptococcus (streptococcus agalactiae)    
group b streptococcus risk status categorization for likelihood of perinatal transmission of group b streptococcus to neonate    
growth failure less than normal linear growth in an infant or child    
growth failure of unknown etiology subnormal linear growth rate in an infant, child or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown    
growth hormone and prolactin-producing adenoma a pituitary gland adenoma composed of acidophilic cells that produce both growth hormone and prolactin. It is characterized by the detection of growth hormone and prolactin within the same acidophilic cell, or an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively    
growth hormone deficiency insufficient production of growth hormone    
growth hormone excess overproduction of growth hormone, a protein-based peptide that stimulates growth, cell reproduction, and cell regeneration    
growth hormone insensitivity syndromes a group of inherited syndromes in which there is impaired growth hormone signaling, despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty    
growth hormone neurosecretory dysfunction reduced spontaneous secretion of growth hormone with normal range response to growth hormone provocative stimuli    
growth hormone-producing adenoma an adenoma of the anterior lobe of the pituitary gland that produces growth hormone.  the vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly    
guillain-barre syndrome a rapidly progressive autoimmune disorder of the peripheral nervous system characterized by limb paresthesias, areflexia, and generalized muscle weakness or paralysis that often begins in the legs and spreads to the arms, torso, and face    
gustatory hallucination perception of a taste in the absence of a corresponding stimulus    
gynecologic surgical procedure surgery performed on the female reproductive system    
gynecomastia development of breast tissue in males    
h1n1 influenza an acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza a (h1n1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness    
haemophilus influenzae b vaccine a vaccine against serotype b of the gram-negative bacterium h. Influenzae (hib). Hib vaccines contain polysaccharide-protein conjugate antigens that produce greater host immune responses than first-generation purified polysaccharide vaccine. These vaccines may differ with regard to use of protein carriers, polysaccharides, diluents, and preservatives    
hair tourniquet a condition in which a hair or thread becomes wrapped around a digit obstructing blood flow    
hallucination a false sensory perception in the absence of an external stimulus, as distinct from an illusion which is a misperception of an external stimulus    
hand, foot, and mouth disease a clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks    
hantavirus nephropathy tubulointerstitial hemorrhage resulting from hantavirus infection    
hantavirus pulmonary syndrome an infection caused by hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems    
haploidentical donor a donor who has only one haplotype in common with the recipient    
harlequin ichthyosis a very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the abca12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures    
harlequin reaction transient blanching of the lower half of the body while in the lateral recumbent position, most commonly seen in premature or low birth weight infants    
hartnup disease an autosomal recessive inherited metabolic disorder caused by mutations in the slc6a19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia    
hashimoto thyroiditis an autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism    
hashitoxicosis severe, transient hyperthyroidism associated with hashimoto thyroiditis    
head circumference a circumferential measurement of the head at the widest point, which is traditionally above the eyebrows    
head injury a traumatic injury to the head    
headache pain in various parts of the head, not confined to the area of distribution of any nerve    
health refers to a person's state of physical, mental and social well-being; usually it refers specifically to the state of being in good health, a state of complete physical, mental and social well-being, and does not consist only of the absence of disease or infirmity. In any organism health constitutes a form of homeostasis with inputs and outputs of energy and mass in approximate equilibrium allowing for growth and continued survival. In humans, a subjective feeling of well-being coming from somatic and cognitive perceptions is considered an essential component of health    
health assessment questionnaire a comprehensive, self-report survey consisting of twenty questions intended as a functional measure of an individual's current ability to accomplish the activities of daily living    
hearing loss a partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central    
heart block an electrocardiographic finding of blocked cardiac electrical impulses along the fibers normally responsible for impulse conduction    
heart disorder a non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma    
heart failure inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction    
heart murmur a periodic humming or blowing sound heard on auscultation of the heart that can indicate the presence of cardiac disease; murmurs are the result of vibrations caused by the turbulent flow of blood in the heart or great vessels. Murmurs are characterized according to the area of generation (mitral, aortic, tricuspid, or pulmonary) and according to the period of the cycle (systolic or diastolic)    
heart rate the number of heartbeats per unit of time, usually expressed as beats per minute    
heart rate score a component of the apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute    
heart rhythm the recurrent, measured movements (rhythm) of a beating heart    
heart valve regurgitation regurgitation of the blood of the heart valves owning to imperfect closing, insufficiency or incompetency of the valves    
heartburn abdominal discomfort with retrosternal pain usually associated with gastroesophageal reflux.    
heavy-metal-induced nephropathy damage to the kidney and renal tubules resulting from heavy metal exposure    
heel to ear measurement useful in assessing neonatal neuromuscular development, this is obtained when the infant is placed in a supine position and the infant's feet are grasped pulled toward the ipsilateral ears. The examiner measures the angle made by the arc from the table to the infant's heels; increased angle for age suggests hypotonia, and decreased angle for age suggests hypertonia    
hellp syndrome severe preeclampsia associated with any of the following findings: thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dl or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances    
hemangioendothelioma a vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics    
hemangioma a benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels    
hematemesis vomiting blood    
hematochezia the passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage    
hematologic disorder a neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation    
hematology test a laboratory test to measure hematopoietic components and investigate hematologic disorders in a blood sample    
hematoma a localized collection of blood, usually clotted, in an organ, space, or tissue, due to a break in the wall of a blood vessel    
hematopoietic stem cell transplantation a therapeutic procedure that involves the transplantation of hematopoietic stem cells, either with the patient as their own donor or from a donor to a patient. This can be used for treatment of malignant and non-malignant diseases    
hematopoietic system finding symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system    
hematuria blood in the urine    
hemianopsia lack of sight in half of the normal field of vision    
hemicrania continua a unilateral headache of moderate intensity with exacerbations of severe pain, not attributed to another disorder, that continuously persists for more than three months, and presents with ipsilateral autonomic symptoms during exacerbations    
hemihypertrophy a finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it    
hemimelia a congenital malformation characterized by the partial or total absence of the distal half of a limb    
hemiparesis weakness or incomplete paralysis of either the left or right side of the body    
hemochromatosis an inherited metabolic disorder characterized by iron accumulation in the tissues    
hemodialysis catheter a hollow tube that is inserted into a large vein to carry blood to and from a dialysis machine    
hemodialysis catheter infection a local or systemic infection associated with the use of a hemodialysis catheter    
hemodialysis catheter-associated bacteremia the presence of bacteria in the blood caused by an infected hemodialysis catheter    
hemoglobin a measurement the determination of the amount of hemoglobin a present in a sample    
hemoglobin a to total hemoglobin ratio measurement the determination of the ratio of hemoglobin a compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage    
hemoglobin a1c increased a laboratory test result demonstrating an increase in the glycosylated hemoglobin in a blood sample    
hemoglobin a2 measurement the determination of the amount of hemoglobin a2 present in a sample    
hemoglobin a2 to total hemoglobin ratio measurement the determination of the ratio of hemoglobin a2 compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage    
hemoglobin barts a severe and rare form of alpha thalassemia characterized by the absence of alpha globin chains. It results in hydrops fetalis, severe anemia, hepatosplenomegaly, heart defects, and genitourinary abnormalities. It leads to death in utero or shortly thereafter    
hemoglobin c disease an autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice    
hemoglobin c to total hemoglobin ratio measurement the determination of the ratio of hemoglobin c compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage    
hemoglobin d disease a condition characterized by the presence of a variant of normal hemoglobin (hemoglobin d), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule    
hemoglobin decreased a laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen    
hemoglobin e disease a condition characterized by the presence of a variant of normal hemoglobin (hemoglobin e), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule    
hemoglobin h disease a form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia    
hemoglobin measurement a quantitative measurement of the amount of hemoglobin present in a sample    
hemoglobin s to total hemoglobin ratio measurement the determination of the ratio of hemoglobin s compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage    
hemoglobin sc disease a hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin c disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease    
hemoglobin trait a condition in which a person is heterozygous for a globin gene, with a one normal allele and one defective allele    
hemoglobin variant measurement a test to measure the variants of hemoglobin    
hemoglobinopathy an inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule    
hemoglobinuria a laboratory test result which indicates free hemoglobin in the urine    
hemolysis disruption of the integrity of the erythrocyte membrane causing release of hemoglobin    
hemolytic anemia anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies    
hemolytic anemia due to erythrocyte membrane defect a group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis    
hemolytic disease of the newborn a disorder of the fetus or newborn that occurs when fetal cells that are coated with igg alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death    
hemolytic uremic syndrome acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia    
hemopericardium an accumulation of blood within the pericardial sac    
hemophilia a deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia a or classic hemophilia (hereditary factor viii deficiency) hemophilia b or christmas disease (hereditary factor ix deficiency), and hemophilia c (hereditary factor xi deficiency). Factor viii inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor viii deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy    
hemophilia a an inherited deficiency of coagulation factor viii characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an x-linked recessive disease, hemophilia a is the most common hemophilia, occurring in approximately 1 in 10,000 male births    
hemophilia b an x-linked inherited bleeding disorder caused by deficiency of the coagulation factor ix   christmas disease]]
hemoptysis coughing up blood from the respiratory tract    
hemorrhage the flow of blood from a ruptured blood vessel    
hemorrhagic cerebrovascular accident an acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage    
hemorrhagic cystitis inflammation of the bladder resulting in bloody urine    
hemorrhagic disease of newborn a condition characterized as a coagulation disturbance in newborns due to vitamin k deficiency resulting in impaired production of coagulation factors ii, vii, ix, and x, and proteins c and s by the liver    
hemorrhoid dilated veins in the anal canal    
hemosiderin in decidua basalis the deposition of hemosiderin along the gravid uterine fundus beneath the placenta    
hemosiderin in decidua parietalis the deposition of hemosiderin along the gravid uterine wall    
hemosiderin in intervillous thrombus the deposition of hemosiderin in a focus of thrombus within the placental intervillous space    
hemothorax a collection of blood in the pleural cavity    
henoch-schönlein purpura a systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin a deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy    
henoch-schönlein purpura nephritis glomerulonephritis in the context of henoch-schönlein purpura    
heparin-induced thrombocytopenia a life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications    
hepatic arteriovenous malformation an abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the liver    
hepatic mass a space-occupying pathologic process that affects the liver parenchyma    
hepatitis inflammation of the liver; usually from a viral infection, but sometimes from toxic agents    
hepatitis a infection acute inflammation of the liver caused by the hepatitis a virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water    
hepatitis a vaccine an inactivated virus vaccine that provides active immunization against hepatitis a virus (hav). Immunization with hepatitis a vaccine induces the formation of anti-hav antibodies which provide protection against hepatitis a infection    
hepatitis b infection a viral infection caused by the hepatitis b virus    
hepatitis b vaccine a non-infectious mixture containing recombinant hepatitis b surface antigen (hbsag) in a liquid vehicle. Immunization with the hepatitis b vaccine induces the formation of specific anti-hepatitis b antibodies and an active immunity against hepatitis b infection    
hepatoblastoma a malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well    
hepatoblastoma with combined fetal and embryonal epithelial differentiation a hepatoblastoma composed of cells resembling fetal epithelial cells and small round cells resembling blastema cells    
hepatoblastoma with pure fetal epithelial differentiation a hepatoblastoma composed of small cells resembling the fetal hepatocytes, forming thin trabeculae    
hepatocellular liver injury disruption of hepatocyte function due to liver injury    
hepatocyte nuclear factor 1-alpha hyperinsulinism hyperinsulinism due to mutation(s) in the gene hnf1a, encoding the transcription factor hepatocyte nuclear factor 1-alpha. This condition may progress to diabetes later in life    
hepatocyte nuclear factor 1-alpha-associated monogenic diabetes monogenic diabetes caused by inactivating mutation(s) in the gene hnf1a, encoding hepatocyte nuclear factor 1-alpha   maturity-onset diabetes of the young, type 3]]
hepatocyte nuclear factor 1-beta-associated monogenic diabetes monogenic diabetes caused by inactivating mutation(s) in the gene hnf1b, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous hnf1b mutations result in permanent neonatal diabetes   maturity onset diabetes of the young, type 5]]
hepatocyte nuclear factor 4-alpha associated monogenic diabetes monogenic diabetes caused by inactivating mutation(s) in the gene hnf4a, encoding hepatocyte nuclear factor 4-alpha   maturity-onset diabetes of the young, type 1]]
hepatocyte nuclear factor 4-alpha hyperinsulinism hyperinsulinism due to mutation(s) in the gene hnf4a, encoding the transcription factor hepatocyte nuclear factor 4-alpha. This condition may progress to diabetes later in life    
hepatorenal syndrome a syndrome characterized by progressive kidney failure in a patient with cirrhosis or fulminant liver failure    
hereditary coagulation factor deficiency an inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding    
hereditary connective tissue disorder an inherited genetic disorder that affects the connective tissues. Representative examples include ehlers-danlos syndrome and marfan syndrome    
hereditary elliptocytosis an inherited blood disorder in which a large number of red blood cells have an elliptical morphology    
hereditary factor I deficiency an inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding    
hereditary factor ii deficiency a very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding    
hereditary factor iii deficiency an autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of tissue factor (factor iii) activity in the blood    
hereditary factor v deficiency a very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor v, resulting in bleeding    
hereditary factor vii deficiency a rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor vii, resulting in bleeding    
hereditary factor x deficiency a rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor x, resulting in bleeding    
hereditary factor xi deficiency disease a rare inherited bleeding disorder caused by deficiency of coagulation factor xi. It may be asymptomatic or manifest with bleeding    
hereditary factor xii deficiency a rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor xii. It may be asymptomatic or manifest with bleeding    
hereditary factor xiii deficiency a rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor xiii, resulting in bleeding    
hereditary fructose intolerance a genetic disorder characterized by the absence of the enzyme aldolase-b from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure    
hereditary hemolytic anemia a congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies    
hereditary hypophosphatemic rickets with hypercalciuria an autosomal recessive form of hypophosphatemic rickets caused by inactivating mutation(s) in the slc34a3 gene, encoding sodium-dependent phosphate transport protein 2c, a protein involved in maintenance of inorganic phosphate concentration in the kidney. The condition is characterized by elevated 1,25-dihydroxyvitamin d (calcitriol) concentrations, resulting in increased intestinal calcium absorption and hypercalciuria. This form of hypophosphatemic rickets is also distinguished by the lack of elevated fibroblast growth factor 23 (fgf23) concentrations    
hereditary neoplastic syndrome the inherited predisposition toward getting a tumor    
hereditary orotic aciduria an extremely rare autosomal recessive inherited disorder caused by mutations in the umps gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (ump) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine    
hereditary pyropoikilocytosis an autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency    
hereditary sideroblastic anemia an inherited form of sideroblastic anemia    
hereditary spherocytosis an autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly    
hermansky-pudlak syndrome a group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis    
hernia the protrusion of part of an organ or fibroadipose tissue through an abnormal opening    
herpetic whitlow a painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2    
heteronymous visual field defect a bilateral visual field defect on opposite sides of the visual space of each eye (right or left)    
heterophyiasis an infection that is caused by the intestinal fluke heterophyes heterophyes, which is most commonly found in asia, the middle east, and africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection    
heterotaxy the abnormal arrangement or position of thoracic and/or abdominal organs in relation to each other, often occurring in a right/left transposition    
heterotaxy syndrome a rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton    
heterotaxy syndrome with asplenia a congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; in this manifestation of the disorder, the spleen is absent    
heterotaxy syndrome with polysplenia a congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this manifestation of the disorder presents with many accessory spleens instead of one    
hexokinase deficiency a rare, autosomal recessive, inherited disorder caused by mutation of the hk1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia    
hexose-6-phosphate dehydrogenase deficiency decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the h6pd gene. This enzyme is necessary to generate nadph, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta hsd type 1 deficiency    
hiatal hernia herniation of the upper part of the stomach through the diaphragm    
hiccup an involuntary contraction of the diaphragm against closed vocal cords, producing the "Hic" sound    
hidradenitis inflammation of the apocrine sweat glands, characterized by redness, itching, pain or swelling of the sweat glands, usually in the axillae or groin    
hidradenitis suppurativa a chronic, suppurative inflammation of the apocrine sweat glands, that is characterized by clusters of bumps or sores    
high molecular weight kininogen deficiency a rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis    
high pitched cry an abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes    
high test reference range reported upper limit of the test reference range    
hip dislocation a congenital or traumatic abnormality in which the femoral head slips out of the acetabulum    
hirschsprung disease a congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon    
hirsutism male-pattern hair growth on a female    
histamine-2 receptor antagonist any agent that competitively binds to and blocks the histamine h2 receptors found in the stomach, heart, uterus, on vascular smooth muscle and in the central nervous system (cns). Of particular clinical relevance is the blockage of h2 receptors found on the parietal cells of the stomach, which prevents gastric acid secretion    
histiocytosis a morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes    
histologic chorioamnionitis inflammation of the fetal sac membranes that is characterized by neutrophilic infiltration of the amnion and chorion    
histoplasmosis a disease caused by the fungus histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated    
hiv infection an infection caused by the human immunodeficiency virus    
hiv-associated nephropathy renal disease in human immunodeficiency virus (hiv)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings    
hmg-coa lyase deficiency a rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma    
hodgkin lymphoma a lymphoma, previously known as hodgkin's disease, characterized by the presence of large tumor cells in an abundant admixture of nonneoplastic cells. There are two distinct subtypes: nodular lymphocyte predominant hodgkin lymphoma and classical hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes    
holocarboxylase synthetase deficiency a rare autosomal recessive inherited disorder caused by mutations in the hlcs gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma    
holoprosencephaly a rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures    
homicidal ideation thinking about ending or making plans to end another's life    
homocystinuria an autosomal recessive inherited metabolic disorder caused by mutations in the cbs, mthfr, mtr, and mtrr genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems    
homonymous visual field defect a bilateral visual field defect on the same side of visual space of each eye (right or left)    
hookworm infection an infection that is caused by hookworms    
hormone measurement the determination of the amount of hormone present in a sample    
horner syndrome interruption of sympathetic innervation to eye and face    
horseshoe kidney a congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure    
human chorionic gonadotropin measurement a laboratory test to detect the amount of human chorionic gonadotropin in a biospecimen    
human leukocyte antigen sensitization presence of preformed antibodies to donor human leukocyte antigen (hla)    
human papilloma virus vaccine a recombinant vaccine of different types of hpv proteins which are well-conserved within types with a significant inter-type variation    
human papillomavirus a strain of papillomavirus that can infect the skin and mucous membranes of humans    
human papillomavirus-16 a virus comprised of a protein coat (capsid) surrounding a circular, double-stranded dna organized into coding and non-coding regions, which can induce skin and mucosal epithelial lesions. Human papillomavirus-16 (hpv16) has been directly linked to cervical cancer and is significantly associated with invasiveness. Progression from low- to high-grade neoplasia is often associated with the integration of the hpv16 genome into the host chromosome    
human papillomavirus-18 a virus comprised of a protein coat (capsid) surrounding a circular, double-stranded dna organized into coding and non-coding regions, which can induce skin and mucosal epithelial lesions. Human papillomavirus-18 (hpv18) has been directly linked to cervical cancer and plays a role in the pathogenesis of the disease. The virus integrates its dna at specific chromosomal locations, such as 8q24 and 12q15. The use of molecular markers for hpv18 infection may allow the identification of patients with early stage cervical cancer and those at high risk for disease recurrence    
humerus fracture a traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken    
hutch diverticulum a congenital out pouching of the bladder involving the ureteral hiatus    
hydatidiform mole a gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes    
hydranencephaly a rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor    
hydroa vacciniforme-like lymphoma a rare, ebv-positive cutaneous t-cell lymphoproliferative disorder, composed of cd8 positive cytotoxic t-lymphocytes.  it affects children, almost exclusively in latin america and asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin    
hydrocephalus a disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain    
hydronephrosis dilation of the urinary collecting space in the kidney    
hydrops fetalis a condition characterized by fluid accumulation in two or more anatomic compartments in the fetus    
hydrothorax the accumulation of serous fluid within the pleural cavity    
hydroureter dilatation of the ureter caused by obstruction of urine flow    
hyperactivity increased motor activity that is not goal directed    
hyperacusis a disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds    
hyperacute allograft rejection an immediate rejection of transplanted tissue caused by the presence of preformed antibodies to donor human leukocyte antigens    
hyperaldosteronemia abnormally high levels of aldosterone in the blood    
hyperaldosteronism overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia    
hyperalgesia abnormally increased pain sense    
hyperammonemia a laboratory test result demonstrating an increased concentration of ammonia in the blood    
hyperamylasemia abnormally high level of amylase in the blood    
hyperandrogenism excessive secretion of androgens from the adrenal glands or gonads. Clinical manifestations may include virilization    
hyperandrogenism, insulin resistance, acanthosis nigricans syndrome a condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. It is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. Etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor    
hyperbilirubinemia abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice    
hypercalcemia abnormally high concentration of calcium in the peripheral blood    
hypercalcemia of malignancy hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function    
hypercalcuria abnormally high level of calcium in the urine    
hypercarbia excessive concentration of carbon dioxide in the blood    
hypercholesterolemia a laboratory test result indicating an increased amount of cholesterol in the blood    
hypercoiled umbilical cord umbilical cord with apparent increased helical coiling of the arteries around the vein    
hypercortisolemia abnormally high level of cortisol in the blood    
hyperemesis gravidarum severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances    
hyperesthesia increased sensitivity to tactile stimulation    
hyperestrogenism abnormally high level of estrogen    
hyperfibrinogenemia abnormally high level of fibrinogen in the blood    
hyperglucagonemia abnormally high levels of glucagon in the blood, which may manifest as hyperglycemia and/or necrolytic migratory erythema    
hyperglycemia abnormally high level of glucose in the blood    
hypergonadotropic hypogonadism ovarian or testicular dysfunction associated with high levels of gonadotropins    
hyperhidrosis excessive perspiration    
hyperhomocysteinemia a serious metabolic condition caused by mutations in the mthfr gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents    
hyperinsulinemia abnormally high levels of insulin in the blood    
hyperinsulinism in the infant of a diabetic mother transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia    
hyperkalemia higher than normal levels of potassium in the circulating blood; associated with kidney failure or sometimes with the use of diuretic drugs    
hyperkalemic mineralocorticoid resistance a genetically heterogynous condition characterized by hyperkalemia, hyperchloremic acidosis, low or suppressed renin activity, and normal to high concentrations of aldosterone. Mutations in genes (for example wnk1 or wnk4), regulating na-cl cotransporters (ncc), na-k-cl cotransporters (nkcc2), or the renal outer medullary potassium (romk) channel have been identified as causative in this condition. The primary abnormality is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid    
hyperkinesia excessive movement    
hyperlactemia abnormally high level of lactate in the blood    
hyperlipasemia a laboratory test result which indicates increased levels of lipase in a biologic specimen    
hypermagnesemia higher than normal levels of magnesium in the circulating blood    
hypernatremia higher than normal levels of sodium in the circulating blood    
hypernatremic dehydration dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk    
hyperparathyroidism hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes    
hyperparathyroidism-jaw tumor syndrome an autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts    
hyperphagia excessive appetite    
hyperphosphatemia abnormally high level of phosphate in the blood    
hyperphosphatemic familial tumoral calcinosis an autosomal recessive disorder caused by loss-of-function mutation(s) in the galnt3, fgf23, or kl gene, which encode polypeptide n-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone    
hyperpigmentation darkening of the skin due to excessive melanin deposition. Causes include skin injuries, pregnancy, eczema, and addison disease    
hyperprogesteronism abnormally high level of progesterone    
hyperprolactinemia abnormally high level of prolactin in the blood    
hyperpyrexia extreme elevation of body temperature above normal    
hyperreninemic hypoaldosteronism hypoaldosteronism characterized by impaired secretion of aldosterone, despite increased renin activity. This condition may be caused by chronic or critical illness, aldosterone synthase deficiency or other genetic conditions    
hypersensitivity reaction an immune response that occurs following exposure to an innocuous antigen, but that does not require the presence of preformed antibodies to the antigen    
hypersexualism excessive sexual behavior    
hypersomnia a sleep disorder characterized by excessive sleepiness    
hypertension blood pressure that is abnormally high    
hyperthermia a condition characterized by an abnormally high body temperature. In a hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production    
hyperthyroidism overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor    
hyperthyroxinemia supranormal concentration of thyroxine in the blood    
hypertonia a condition of increased muscle tone manifested by increased resistance of the muscle to passive stretching    
hypertrichosis excessive hair growth anywhere on the body    
hypertriglyceridemia a laboratory test result indicating elevated triglyceride concentration in the blood    
hypertrophic pyloric stenosis an abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration    
hypertrophic scar a permanent mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It is elevated and does not extend beyond the original boundaries of the wound; the elevation may stabilize or regress spontaneously    
hyperuricemia elevated blood concentrations of uric acid    
hyperventilation abnormally prolonged, rapid, and deep breathing    
hypervolemia too much fluid in the blood    
hyphema hemorrhage within the anterior chamber of the eye; bloodshot    
hypoalbuminemia concentration of serum albumin below normal limits for the age related normal range    
hypocalcemia lower than normal levels of calcium in the circulating blood    
hypochondroplasia an autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia    
hypochromic anemia anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency    
hypocitraturia abnormally low level of citrate in the urine    
hypocoiled umbilical cord umbilical cord with apparent reduced helical coiling of the arteries around the vein    
hypocortisolemia abnormally low level of cortisol in the blood    
hypoesthesia impairment of tactile sensitivity manifesting as partial loss of sensitivity to sensory stimuli    
hypogalactia decreased secretion of breast milk    
hypogeusia decreased ability to taste    
hypoglycemia abnormally low level of glucose in the blood    
hypogonadism a disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation    
hypogonadotropic hypogonadism abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis   secondary hypogonadism]]
hypogonadotropic hypogonadism with adrenal hypoplasia congenita hypogonadotropic hypogonadism with congenital adrenal hypoplasia associated with mutation(s) in the nr0b1 gene (on the x chromosome)    
hypogonadotropic hypogonadism with anosmia an x-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia    
hypohidrosis reduced sweating. Causes include burns, dehydration, radiation, and leprosy    
hypokalemia lower than normal levels of potassium in the circulating blood    
hypokinesia diminished movement    
hypomagnesemia lower than normal levels of magnesium in the circulating blood    
hypomanic mood a less severe form of mania characterized by elevated mood, hyperactivity, and grandiosity. In contrast to mania, these symptoms do not cause significant impairment of the individual's productivity at work, or social and family relationships    
hyponatremia lower than normal levels of sodium in the circulating blood    
hyponatremic mineralocorticoid resistance due to mineralocorticoid receptor defect an autosomal dominant condition presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone, associated with loss-of-function mutation(s) in the nr3c2 gene, encoding the mineralocorticoid receptor    
hyponatremic mineralocorticoid resistance due to urinary tract infection a transient condition associated with urinary tract infections in infants presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone    
hypoparathyroidism an endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions    
hypophagia reduced ingestion of food    
hypophonia the inability to produce speech sounds at normal volume    
hypophosphatasia a rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (tnsalp) activity. It is characterized by low activity of tnsalp in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders    
hypophosphatemia lower than normal levels of phosphates in the circulating blood    
hypophosphatemic rickets rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin d    
hypophysitis an inflammatory process in the pituitary gland    
hypopigmentation abnormal lightening of skin due to decreased melanin production or deposition. Vitiligo, albinism, and leukoderma are among the disorders that are associated with skin hypopigmentation    
hypopituitarism a condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions    
hypoplasia incomplete or underdevelopment of a tissue or organ    
hypoplastic left heart syndrome a rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy    
hypoplastic right heart syndrome a rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment    
hypoprogesteronism abnormally low level of progesterone    
hypopyon an accumulation of pus in the anterior chamber of the eye    
hyporeninemic hypoaldosteronism hypoaldosteronism characterized by hyperkalemia and inappropriately low renin activity. This condition may be caused by a primary renal disorder, drugs or autoimmune processes    
hyposmia decreased ability to smell    
hypospadias a congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities    
hypotension blood pressure that is abnormally low    
hypothalamic hamartoma a benign, disorganized mass of various mature cells, located heterotopically in the hypothalamus; it is often associated with endocrine and neurological conditions, such as precocious puberty and gelastic seizures    
hypothalamic hypothyroidism hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone   tertiary hypothyroidism]]
hypothermia abnormally low body temperature    
hypothyroid goiter goiter associated with reduced thyroid hormone secretion    
hypothyroidism abnormally low levels of thyroid hormone    
hypothyroxinemia decreased concentration of thyroxine    
hypotonia a condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching    
hypotonic cerebral palsy a type of cerebral palsy characterized by decreased muscle tone    
hypotonic-hyporesponsive episode acute onset of unresponsiveness or diminished level of consciousness, associated with loss of muscle tone and pallor or cyanosis, that occurs within 48 hours after childhood immunizations. It is primarily associated with pertussis-containing vaccines administered to children under two years of age    
hypoventilation a state in which there is a reduced amount of air entering the pulmonary alveoli    
hypovolemia abnormally decreased volume of circulating fluid (plasma) in body    
hypoxemia a finding indicating decreased oxygen levels in the blood    
hypoxia a decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma)    
hypoxic ischemic encephalopathy ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures    
hysterotomy abortion a type of abortion where the product of conception is accessed through a surgical incision on the corpus uteri intended to terminate the pregnancy    
iatrogenic botulism botulism that occurs following injection of botulinum toxin    
iatrogenic central hypothyroidism central hypothyroidism due to medical or surgical treatment    
iatrogenic contrasexual pubertal development contrasexual pubertal development caused by medical intervention    
iatrogenic cushing syndrome cushing syndrome as a result of increased glucocorticoids due to medical therapy    
iatrogenic growth failure growth failure due to medical intervention    
iatrogenic hypoparathyroidism hypoparathyroidism resulting from medical treatment or intervention    
iatrogenic obesity obesity resulting from medical treatment or intervention    
iatrogenic primary hypothyroidism primary hypothyroidism due to medical or surgical treatment    
ichthyosis a group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe    
identification the procedure of having an identity established    
idiopathic 46,xy differences of sex development conditions affecting individuals whose karyotype is 46,xy that is characterized by atypical development of the internal or external sex structures, or the gonads, and in whom no genetic, environmental, or biochemical causation can be established    
idiopathic aplastic aplasia aplastic anemia without a known cause    
idiopathic central precocious puberty central precocious puberty for which no underlying cause can be identified    
idiopathic crescentic glomerulonephritis crescentic glomerulonephritis, the cause of which is unknown    
idiopathic inflammatory myopathy an umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies    
idiopathic isolated growth hormone deficiency insufficient secretion of growth hormone for which no underlying cause can be found    
idiopathic ketotic hypoglycemia ketotic hypoglycemia that usually occurs in young, thin children in association with infection or fasting, and which typically resolves by age 6-8 years    
idiopathic membranous glomerulopathy chronic degenerative changes in the kidney characterized by thickened and inflamed glomeruli and proteinurea, the cause of which is unknown    
idiopathic nephrotic syndrome nephrotic syndrome for which no cause has been identified    
idiopathic precocious puberty precocious puberty for which no underlying cause can be identified    
idiopathic renal papillary necrosis necrosis of the renal papillae, for which no underlying cause has been identified    
idiopathic retroperitoneal fibrosis a condition characterized by abnormal proliferation of fibrous tissue in the compartment posterior to the peritoneum, for which no underlying cause has been identified    
idiopathic short stature height greater than two standard deviations below the mean for the age and sex of the reference population    
idiopathic tall stature tall stature for which no underlying cause can be found    
iga nephropathy a chronic autoimmune glomerulonephritis characterized by the deposition of immunoglobulin a in the mesangium of the glomeruli. It is manifested with hematuria and mild proteinuria   berger's disease]]
iga nephropathy, familial iga nephropathy secondary to a genetic mutation that is transmitted from parents to offspring    
iga nephropathy, infection-associated iga nephropathy co-occurring with infectious disease    
iga nephropathy, liver disease-associated iga nephropathy secondary to hepatobiliary disease    
igm - associated nephropathy a condition characterized by deposition of igm antibody in the glomerulus    
ileal atresia a congenital malformation characterized by the absence of a normal opening in a part of the ileum    
ileal band a pathologic fibrous band that impedes passage of intestinal contents through the ileum    
ileal perforation a rupture in the ileal wall due to traumatic or a pathologic processes    
ileal web the formation of tissue in the lumen of the ileum that results in partial obstruction    
ileostomy site a surgically created external opening into the ileum    
ileus decrease in peristalsis in the absence of a mechanical bowel obstruction    
image identifier a sequence of letters, numbers, or other characters that specifically identifies a particular image    
image syndrome a condition caused by heterozygous mutation(s) in the cdkn1c gene, encoding cyclin-dependent kinase inhibitor 1c, and characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies    
imaging information a collection of data pertinent to a radiographic study    
immature granulocytes in peripheral blood increased the presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process    
immature myeloid cells increased in bone marrow an increased number of myeloid precursors in the bone marrow    
immature retinal vasculature a finding that indicates the presence of immature retinal vessels as a result of prematurity    
immature retinal vasculature in retinal anatomic zone 1 a finding that indicates the presence of immature retinal vessels in zone 1 of the retina    
immature retinal vasculature in retinal anatomic zone 2 a finding that indicates the presence of immature retinal vessels in zone 2 of the retina    
immature retinal vasculature in retinal anatomic zone 3 a finding that indicates the presence of immature retinal vessels in zone 3 of the retina    
immature retinopathy of prematurity an immature state in which retinopathy of prematurity cannot be established    
immune complex mediated membranoproliferative glomerulonephritis glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation    
immune dysregulation, polyendocrinopathy, and enteropathy x-linked syndrome an x-linked recessive autoimmune condition caused by mutation(s) in the foxp3 gene, encoding the forkhead box p3 transcription factor. The condition is characterized by infantile onset of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Associated features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The condition is usually fatal before age 2 years if not treated with bone marrow transplantation    
immune globulin a preparation of plasma proteins derived from the pooled plasma of adult donors. Largely comprised of igg antibodies, therapeutic immune globulin provides passive immunization by increasing the recipient's serum levels of circulating antibodies. Igg antibodies have multiple functions, including binding to and neutralizing bacterial toxins; opsonization of pathogens; activation of complement; and suppression of pathogenic cytokines and phagocytes through binding to cd5, interleukin-1a (il-1a), interleukin 6 (il-6), tumor necrosis factor-alpha (tnf-alpha), and t-cell receptors. Therapeutic immune globulin may diminish pathogenic mechanisms in some autoimmune diseases by binding to and inhibiting the activity of autoantibodies. (nci04)]]    
immune hemolytic anemia an acquired anemia resulting from immune-mediated destruction of the red blood cells. Causes include autoimmune disorders, blood transfusions, and drugs    
immune hydrops fetalis fluid accumulation in multiple fetal anatomic cavities attributable to a maternal immune response against fetal blood cell antigens    
immune system disorder a disorder resulting from an abnormality in the immune system    
immune thrombocytopenia a general class of thrombocytopenia due to immune destruction of platelets.  it includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.G., aids, transfusion, lupus erythematosus)    
immune thrombocytopenic purpura an autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. Itp is a diagnosis of exclusion and is heterogeneous in origin    
immune-mediated coagulopathy disorders of coagulation caused by autoantibodies generated against native coagulation factors or therapeutically-administered hemostatic agents    
immunization inoculating an individual with either killed or live agents to prevent contraction of a disease    
immunocompromised a loss of any arm of immune functions, resulting in potential or actual increase in infections. This state may be reached secondary to specific genetic lesions, syndromes with unidentified or polygenic causes, acquired deficits from other disease states, or as result of therapy for other diseases or conditions    
immunodeficiency a disorder in which the immune system is unable to mount an adequate immune response    
immunoglobulin superfamily member 1 deficiency syndrome an x-linked recessive syndrome caused by loss-of-function mutation(s) in igsf1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency    
impaired balance a deficit in equilibrium, which may manifest as unsteady ambulation or inability to maintain an upright position    
impaired judgement reduced ability to plan, poor decision making    
imperforate anus a congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities    
impetigo a contagious bacterial cutaneous infection that affects children and is usually caused by staphylococcus aureus. It usually presents in the face with honey colored scabs    
impulsivity initiation of actions without forethought as to the cost, results or consequences    
in utero bowel perforation bowel perforation in utero that may result in meconium peritonitis    
in-utero drug withdrawal drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence    
inactivated poliovirus vaccine a vaccine consisting of inactivated poliovirus (ipv) types 1,2 and 3, with active immunizing activity against poliomyelitis. Upon intramuscular vaccination, inactivated poliovirus vaccine (ipv) activates the immune system to develop antibodies against polioviruses    
inactivated vaccine a preparation of killed microorganisms that is intended to prevent or treat an infectious disease by inducing active immunity to the causative microorganism    
inactivating thyroid stimulating hormone receptor gene mutation mutation(s) in the tshr gene, resulting in decreased function of the thyroid stimulating hormone receptor    
incarcerated inguinal hernia the trapping of bowel or omentum inside the inguinal canal that cannot be reduced, resulting in inflammation, pain, nausea, and possible bowel obstruction    
inch a traditional unit of length equal to 1/12 of a foot or 2.54 centimeters    
incident nephrotic syndrome new onset nephrotic syndrome    
inclusion body myositis an acquired or hereditary chronic inflammatory disorder of the muscles characterized by the morphologic finding of vacuoles and filamentous inclusions in the muscle tissues    
incomplete abortion the uterus is not entirely emptied of products of conception following spontaneous, medical or operative pregnancy termination    
incomplete maternal surface of placenta a maternal placental surface that lacks a smooth basal plate. Missing pieces of the placental parenchyma are appreciable    
incongruent visual field defect non-identically shaped visual field defect in the same location in both eyes    
incontinent epispadias epispadias with urinary incontinence    
incontinentia pigmenti a rare disorder caused by mutations in the ikbkg gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation    
increased bone density a finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and paget disease    
increased creatinine a laboratory test result demonstrating an increased concentration of creatinine in a biological specimen    
increased drug level a laboratory test result demonstrating an increased concentration of a specific drug    
increased energy feeling of excessive energy, which may be associated with increased activity    
increased libido increased sexual desire    
increased placental syncytial knots increased number of syncytiotrophoblasts with clusters of apoptotic bodies compared to what would be expected for gestational age    
increased respiratory secretion an increase in respiratory secretions    
indicated cesarean delivery a cesarean delivery that is performed for specific, medical or obstetric indications, which may be scheduled or unscheduled    
indicated preterm birth preterm birth from 20 weeks to 36 weeks, and 6 days of gestation that is necessitated by the medical condition of the mother or fetus    
indicator an event, entity or condition that typically characterizes a prescribed environment or situation and determines or aids in determining whether certain stated circumstances exist or criteria are satisfied    
indirect inguinal hernia a protrusion of the abdominal cavity contents into the inguinal canal through the deep and superficial inguinal rings    
indirect maternal death death resulting from previously existing disease or a disease developing during pregnancy which was not associated with gestation, but which was aggravated by the unique physiologic changes of pregnancy. Examples of indirect deaths include those associated with epilepsy, diabetes, cardiac disease and hormone-dependent malignancies    
indirect transmission the transmission of an infectious agent from a source to a host through an intermediary such as inanimate objects (vehicles) or living organisms (vectors)    
induced abortion a surgical or medical procedure that terminates a pregnancy by removing the products of conception    
induction of labor the use of pharmacological and/or mechanical methods to initiate labor, including spontaneous rupture of membranes without contractions. Examples of methods include: artificial rupture of membranes, balloons, oxytocin, prostaglandin, laminaria, or other cervical ripening agents. (adapted from revitalize)]]    
induration the quality of being hard, the process of hardening, or an abnormally hard spot or place, particularly of the skin    
indwelling urinary catheter a hollow tube that is inserted and left in the bladder to promote the drainage of urine    
ineffective hematopoiesis a dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation    
infancy a human life stage that begins at birth and continues until twelve complete months of age    
infant a young child between one month and two years of age    
infant acute lymphoblastic leukemia an acute lymphoblastic leukemia that occurs in infancy    
infant acute lymphoblastic leukemia with mll gene rearrangement an acute lymphoblastic leukemia with rearrangement of the mll gene that occurs in infancy    
infant acute lymphoblastic leukemia without mll gene rearrangement an acute lymphoblastic leukemia without rearrangement of the kmt2a gene that occurs in infancy    
infant botulism botulism that is caused by contact with spores of clostridial bacteria, which subsequently grow in the intestine and release toxin    
infant failure to thrive a clinical finding indicating less than normal growth in infancy    
infant formula a nutritional substitute for breast milk, usually with a foundation of cow or soy milk    
infant formula intolerance inability to effectively digest or absorb the components of breast milk substitutes. Symptoms may include emesis, abdominal distension or diarrhea    
infant irritability crying easily, difficult to console    
infant leukemia an acute lymphoblastic or acute myeloid leukemia that occurs in infancy    
infant of diabetic mother an infant that was born to a mother who persistently had high glucose blood levels during pregnancy. The infants of diabetic mothers are large for their gestational age and may develop hypoglycemic episodes soon after birth    
infant reflex primitive reflex actions that newborns display in response to specific stimuli. These reflexes are involuntary and most disappear as the infant matures    
infantile cortical hyperostosis a self-limited inflammatory disorder of unknown etiology found in infants that causes swelling of the soft tissue, changes to bone, and irritability    
infantile fibrosarcoma a fibrosarcoma that occurs in infants.  it shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in etv6-ntrk3 gene fusion.  it usually affects the superficial and deep soft tissues of the extremities.  the prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes    
infantile pyknocytosis a rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear    
infantile spasms seizures in the first years of life characterized by flexion and extension jerks of the neck, trunk, and extremities    
infarct a localized pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion    
infection the invasion of an organism's body tissues by disease-causing agents and their multiplication, as well as the reaction by the host to these organisms and/or toxins that the organisms produce    
infectious conjunctivitis an infectious process affecting the conjunctiva    
infectious disorder a disorder resulting from the presence and activity of a microbial, viral, fungal, or parasitic agent. It can be transmitted by direct or indirect contact    
infectious encephalitis an acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi    
infectious hidradenitis hidradenitis that is caused by an infectious agent, usually a bacterium    
infectious keratitis inflammation of the cornea secondary to an infectious process    
infectious meningitis inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures    
infectious meningoencephalitis inflammation of the meninges and brain caused by an infectious agent    
infectious mononucleosis a condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the epstein-barr virus    
infectious otitis externa inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain    
infectious rhinitis an inflammatory process affecting the nasal mucosa, usually caused by viruses (e.G., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain    
infective endocarditis an infectious process involving the endocardial layer of the heart    
inferior vena cava occlusion blockage of the lumen of the inferior vena cava    
inferior vena cava stenosis abnormal narrowing of the lumen of the inferior vena cava    
inflammatory bowel disease a spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes crohn's disease, ulcerative colitis, and colitis of indeterminate type    
influenza an acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated a, b, and c, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system    
influenza vaccination the administration of live or attenuated influenza virus for the prophylaxis of influenza    
infundibular stenosis narrowing of the infundibulum to the calyx, which produces an impediment to urine flow    
inguinal hernia the protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region    
inherited color blindness genetic based difficulty in distinguishing colors    
injury damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity    
inner restlessness a feeling of unrest and/or an inability to feel calm or relaxed    
inr increased a laboratory test result demonstrating an increased ratio of the patient's prothrombin time to a control sample    
insomnia a sleep disorder characterized by difficulty in falling asleep and/or remaining asleep    
insufficient breast milk syndrome failure to thrive due to poor intake by the infant, inadequate feeding schedule or insufficient maternal production of breast milk    
insulin growth factor I deficiency insufficient circulating insulin-like growth factor-I    
insulin growth factor I resistance tissue unresponsiveness to insulin-like growth factor-I    
insulin receptor mutation - associated insulin resistance syndromes insulin resistance caused by inactivating mutation(s) in the insr gene encoding the insulin receptor    
insulin resistance decreased sensitivity to circulating insulin which may result in acanthosis nigicrans, elevated insulin level or hyperglycemia    
insulin resistance syndrome a cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome    
insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism a syndrome of insulin resistance caused by mutation(s) in the insr gene, encoding the insulin receptor. This condition is characterized by a clinical triad of hyperinsulinemia, acanthosis nigricans, and hyperandrogenism without lipodystrophy. This is the least severe of a spectrum of disorders; the other two conditions are rabson-mendenhall syndrome and donohoe syndrome    
insulinoma an insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin    
integumentary system finding symptoms, physical examination results, and/or laboratory test results related to the integumentary system    
intellectual disability a broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group    
intentional trauma an injury that is not the result of an accident or natural causes    
intercostal retractions the marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties    
interferon-gamma release assay a blood test that exposes a person's lymphocytes ex vivo to two or three mycobacterium tuberculosis-specific antigens; a positive result suggests that the person has tuberculosis infection    
intermediate uveitis inflammation of the pars plana    
intermittent auscultation a method of assessing intrapartum fetal heart rate during set intervals using an external device, such as a doppler, fetoscope or stethoscope    
intermittent fetal heart rate deceleration fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe    
internal fetal heart rate monitoring a technique that utilizes a wire attached to the fetal scalp to monitor fetal heart rate. The wire detects fetal cardiac electrical activity to determine the baseline fetal heart rate and variability    
internal nare the inner portion of the nostrils of the nose    
internal strabismus a form of strabismus in which one or both eyes are deviated medially    
international league of associations for rheumatology classification criteria for juvenile idiopathic arthritis a set of criteria used to assign children with chronic arthritis to one of the seven mutually exclusive categories of juvenile idiopathic arthritis (jia), intended to be used for research purposes    
international myositis assessment and clinical studies group a coalition of health care providers and researchers with experience and interest in the myositis syndromes. (adapted from niehs website)]]    
interrupted aortic arch a rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus    
intervention or procedure an activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects    
intervillous thrombus a focus of maternal thrombus within the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age    
intestinal duplication a rare congenital abnormality characterized by the presence of a duplicated segment of the intestine. The duplicated segment is cystic    
intestinal fistula an abnormal communication between the small or large intestine and another organ or cavity    
intestinal malrotation a congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction    
intestinal perforation a rupture in the wall of the small or large intestine due to traumatic or pathologic processes    
intestinal stricture fibrosis of the wall of a segment of the intestine that leads to intestinal lumen narrowing    
intestinal volvulus twisting of a loop of bowel that results in intestinal obstruction    
intra-abdominal abscess an abscess within the abdomen    
intra-abdominal hemangioma a hemangioma arising from organs within the abdominal cavity    
intraarticular corticosteroid treatment with a corticosteroid formulation designed for and administered into a joint space    
intracranial aneurysm a congenital or acquired aneurysm within the cranium    
intracranial hemorrhage bleeding within the cranium    
intracranial hemorrhage related to birth bleeding within the skull of a newborn infant occurring during labor and/or delivery    
intracranial laceration related to birth tearing of the cerebral or cerebellar parenchyma or vessels of a newborn infant due to forces occurring during labor and delivery    
intramuscular route of administration intramuscular injection is a route of drug administration via injection into muscle tissue. Aqueous or oleaginous solutions and emulsions or suspensions may be administered. Absorption rates, delay in availability of the drug to the systemic circulation, and duration of effect are perfusion-limited, depend on molecular size of the agent, volume, and osmolarity of the drug solution, fat content of the injection site, and patient physical activity    
intraocular foreign body external material inside the eyeball    
intraocular infection infection within the eye    
intraocular lens dislocation displacement of the intraocular lens from the visual axis    
intraocular pressure rise increased pressure of the intraocular fluid in the eye    
intraocular retinoblastoma retinoblastoma during childhood that has not spread beyond the eye    
intrapartum fetal stimulation any method used to elicit a fetal heart rate acceleration response during labor    
intrapartum pyrexia elevated body temperature greater than or equal to 38c (100.4f) after the onset of labor but prior to the delivery of the fetus    
intrapartum shock severe loss of blood pressure leading to inadequate tissue perfusion after the onset of labor but prior to the delivery of the fetus    
intrapartum stillbirth fetal death greater than or equal to 20 weeks of gestation during labor with apgar scores of 0 at 1 minute, 5 minutes and beyond    
intrapartum uterine rupture an acute symptomatic tearing of the uterine wall after the onset of labor    
intrauterine cordocentesis the retrieval of blood sample from the umbilical cord while the fetus is in utero    
intrauterine resuscitation treatments or maneuvers applied to the mother to improve uterine perfusion or oxygen delivery to the fetus in response to abnormal fetal heart rate patterns    
intravenous immunoglobulin the administration of a blood product derived from pooled igg antibodies extracted from donor plasma delivered intravenously. It is used to treat multiple disorders, including immunodeficiencies, autoimmune disorders, and active infections    
intravenous route of administration administration of a drug within or into a vein or veins. Introduction of the drug directly into venous circulation results in 100% bioavailability due to an absence of the absorption phase, provides a precise and continuous mode of drug therapy, especially for drugs with a narrow therapeutic index    
intraventricular hemorrhage bleeding into the brain's ventricles    
intraventricular hemorrhage of prematurity bleeding within the cerebral ventricles in a preterm infant    
intraventricular hemorrhage of the newborn with ventricular dilatation bleeding into the lateral cerebral ventricles of a newborn infant with ventricular dilatation directly attributable to the acute bleeding    
intraventricular hemorrhage of the newborn without ventricular dilatation bleeding into the lateral cerebral ventricles of a newborn infant without acute ventricular dilatation    
intraventricular hemorrhage related to birth bleeding into the cerebral ventricles that occurs during labor and/or delivery    
intraventricular hemorrhage with parenchymal hemorrhage of newborn bleeding into the lateral cerebral ventricles and the adjacent brain tissue of a newborn infant    
intravesical ureterocele a ureterocele that is located entirely within the bladder, and which may be associated with a single system, with the upper pole ureter of a completely duplicated system, or rarely associated with a lower pole ureter. (adapted from glassberg ki, braren v, duckett jw, jacobs ec, king lr, lebowitz rl et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J urol 1984; 132(6):1153-1154.)]]    
intrusive thought an unwelcome and persistent idea, image or thought that is upsetting to an individual    
intussusception telescoping or invagination of a part of the intestine into an adjacent segment    
invasive candidiasis a fungal infection by any of the candida species in a sterile body compartment    
invasive hydatidiform mole a complete hydatidiform mole or very rarely a partial mole that invades the myometrium    
invasive listeriosis a bacterial infection by listeria monocytogenes in a sterile body compartment    
iodide transport defect a condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the slc5a5 gene encoding the sodium-iodide symporter are responsible for the condition    
iodine deficiency hypothyroidism hypothyroidism due to insufficient intake of iodine    
iridodialysis a separation of the iris from the ciliary body    
iron overload accumulation of iron in the tissues. It may be a manifestation of an inherited disorder (e.G., hemochromatosis) or acquired (in patients with repeated blood transfusions). Symptoms include hepatomegaly, arthritis, diabetes mellitus, and bronzed skin. If untreated it has a progressive course and may lead to death    
iron-deficiency anemia anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss    
irregular respiration a change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations    
irritability excited response to stimuli    
irritable bowel syndrome gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause    
ischemic necrosis loss of vascularization and tissue death caused by the disruption in the arterial access. Common causes include trauma due to accidents, insect or reptile bites, severe cold exposure or pathological conditions such as infarctions or blood dyscrasias    
ischemic nephropathy nephropathy due to hypoperfusion of the kidney    
isolated follicle stimulating hormone deficiency subnormal concentration of follicle stimulating hormone (fsh), associated with mutations in the fshb gene, encoding follitropin subunit beta    
isolated glucocorticoid deficiency abnormally low or absent production of glucocorticoids, characterized by unresponsiveness to adrenocorticotropic hormone. It is hereditary and potentially lethal    
isolated non-pigmented micronodular adrenal hyperplasia a subtype of micronodular adrenal hyperplasia, characterized by multiple non-pigmented nodules    
isovaleric acidemia a rare autosomal recessive inherited disorder caused by mutations in the ivd gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma    
jaundice yellow pigmentation of the skin, mucous membranes, and the eyes due to hyperbilirubinemia. Causes include liver disease, biliary tract obstruction, and hemolysis    
jejunal atresia a congenital malformation characterized by the absence of a normal opening in a part of the jejunum    
jejunal band a pathologic fibrous band that impedes passage of intestinal contents through the jejunum    
jejunal web the formation of tissue in the lumen of the jejunum that results in partial obstruction    
jejunostomy site a surgically created external opening into the jejunum    
jod-basedow iodine-induced hyperthyroidism    
joint effusion abnormally increased amount of fluid in a joint cavity, usually as a result of joint inflammation    
joint stiffness a sensation of discomfort and tightness while moving a joint. Typically there is decreased joint range of motion. Causes include arthritis, joint overuse, joint injury, and the aging process    
junctional ectopic tachycardia a tachycardia originating in or adjacent to the av junction    
juvenile arthritis disease activity score a continuous measure of disease activity in juvenile arthritis related to inflammation. This validated measure has established cut points of minimal disease activity, inactive disease and remission    
juvenile breast papillomatosis a benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females.  the cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers.  in a minority of cases, atypia may be present    
juvenile dermatomyositis an inflammatory myopathy of childhood resulting in muscle weakness, and associated with a characteristic skin rash    
juvenile dermatomyositis sine myositis a rare form of juvenile dermatomyositis that manifests with characteristic cutaneous findings for at least six months in the absence of any detectable muscle involvement    
juvenile idiopathic arthritis a group of chronic, inflammatory childhood disorders of unknown etiology that primarily involve joints    
juvenile localized scleroderma localized scleroderma presenting before the age of eighteen    
juvenile myelomonocytic leukemia a myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages.  myelomonocytic proliferation is seen in the bone marrow and the blood.  the leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (who, 2001)]]    
juvenile paget disease a bone disorder caused by autosomal recessive mutation(s) of the gene tnfrsf11b, which encodes tumor necrosis factor receptor superfamily member 11b. This condition is characterized by excessive osteoclastic resorption of bone followed by deposition of weak, disorganized woven bone. Clinical characteristics include short stature, enlarged skull, bony deformities, bone pain, warm skin over the affected bone, joint stiffness, headaches, hearing loss, and elevated serum alkaline phosphatase    
juvenile pilocytic astrocytoma a pilocytic astrocytoma that occurs during adolescence    
juvenile polymyositis an idiopathic inflammatory myopathy of childhood resulting in muscle weakness    
juvenile primary fibromyalgia syndrome chronic, diffuse, non-inflammatory musculoskeletal pain disorder associated with fatigue and sleep disturbance that can occur in childhood and adolescence. Tender points are not necessary to make the diagnosis, but if present may be less numerous than found in adults    
juvenile psoriatic arthritis childhood arthritis typically associated with psoriasis    
juvenile rheumatoid arthritis (aq) an older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the international league of associations for rheumatology (ilar) juvenile idiopathic arthritis classification system   jra]]
juvenile spondyloarthritis a group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood    
juvenile spondyloarthritis disease activity index a set of criteria used to determine the activity of juvenile spondyloarthritis related to inflammation    
juvenile systemic sclerosis systemic sclerosis that is diagnosed in children. Juvenile systemic sclerosis is more likely to be of the overlap variant and presents with musculoskeletal involvement    
juvenile type granulosa cell tumor a granulosa cell tumor occurring in the ovary and testis. In females it occurs predominantly in the first three decades of life and presents unilaterally as stage I disease in the vast majority of cases. It is characterized by the presence of granulosa cells forming macrofollicular structures. The majority of cases have a good prognosis. In males it represents the most frequent congenital testicular neoplasm and the vast majority of cases occur in the perinatal period. It presents as a scrotal or abdominal mass and it more often affects the left testis. Approximately 20% of the patients have ambiguous external genitalia. It is characterized by the presence of cystic spaces lined by granulosa cells and cells resembling theca cells. Metastases have not been reported    
juvenile type ovarian granulosa cell tumor a granulosa cell tumor that affects females in the first three decades of life.  in young girls it may present with pseudoprecocity.  in women during reproductive years, it may present with menstrual abnormalities    
juvenile type testicular granulosa cell tumor a rare sex cord-stromal tumor that arises from the testis.  it is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period.  it usually presents as an asymptomatic scrotal or abdominal mass.  morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells    
juvenile xanthogranuloma a benign histiocytic tumor that occurs during childhood; it is distinct from langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and touton-type giant cells in the dermis.  the lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules    
k atp associated developmental delay, epilepsy and neonatal diabetes a condition characterized by k atp channel-associated permanent neonatal diabetes mellitus accompanied by neurological manifestations of developmental delay and epilepsy that may be associated with the severity of the mutation(s)    
k atp associated transient neonatal diabetes mellitus k atp channel-associated neonatal diabetes mellitus that resolves spontaneously    
k atp channel-associated diabetes mellitus diabetes mellitus caused by activating mutation(s) in genes (kncj11 and/or abcc8) encoding either of the 2 proteins (kir6.2 and/or sur1) that make up the pancreatic beta cell adenosine triphosphate-sensitive potassium channel, which is crucial for the regulation of glucose-induced insulin secretion    
k atp permanent neonatal diabetes k atp channel-associated neonatal diabetes mellitus that does not resolve spontaneously    
kabuki syndrome a rare, autosomal dominant or x-linked dominant inherited syndrome caused by mutations in the kmt2d gene (also known as mll2) or the kdm6a gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability    
karyotype the assessment of the chromosomal morphology and number in somatic cells of an individual    
katp-associated hyperinsulinism hyperinsulinism caused by non-functional beta-cell atp-sensitive potassium channels due to inactivating mutation(s) in either the abcc8 or kcnj11 gene    
kawasaki disease a vasculitis characterized by inflammation of the arteries, particularly the coronary arteries. The vasculitis may lead to aneurysm formation and possibly, heart attacks. It affects young children who usually present with persistent high fever, redness of the mucous membranes of the mouth, redness of the palms and soles, skin rashes, lymphadenitis, and joint pain and swelling    
kearns-sayre syndrome a rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature    
keloid an irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively    
kenny-caffey syndrome a genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia    
kenny-caffey syndrome type 1 an autosomal recessive form of kenny-caffey syndrome due to mutation(s) in the tbce gene, encoding tubulin-specific chaperone e. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet    
kenny-caffey syndrome type 2 an autosomal dominant form of kenny-caffey syndrome due to mutation(s) in the fam111a gene, encoding protein fam111a. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones    
keratitis inflammation of the cornea    
kernicterus a rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin    
kernicterus due to isoimmunization encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of rh incompatibility between the mother and the fetus    
ketonuria the presence of ketone bodies in the urine    
ketotic hypoglycemia a condition in which hypoglycemia is accompanied by ketosis. This condition may be a manifestation of another condition such as glycogen storage disease, ketone utilization defects, growth hormone deficiency, or cortisol deficiency    
kidney allograft thrombosis thrombus formation within the arterial or venous system of a donor kidney post transplantation    
kidney disease a neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative examples of neoplastic conditions include benign processes (e.G., renal lipoma and renal fibroma) and malignant processes (e.G., renal cell carcinoma and renal lymphoma)    
kidney impairment diminished kidney function    
kidney stone the presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins    
kidney tumor a benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, wilms tumor, rhabdoid tumor, sarcoma, and lymphoma    
kir6.2-associated diabetes mellitus diabetes mellitus caused by activating mutation(s) in the kcnj11 gene, encoding the inwardly rectifying kir6.2 subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: inactivating mutation(s) in the kcnj11 gene result in hyperinsulinism    
klinefelter syndrome a sex chromosome disorder caused by the presence of an extra x chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present    
klippel-feil sequence a rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations    
klippel-trenaunay-weber syndrome a rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg    
klumpke's palsy weakness or paralysis of muscles in the forearm or hand due to damage of the lower brachial plexus    
krabbe disease a rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness    
kyphosis abnormally increased curvature of the thoracic portion of the spine    
labial fusion usually found in girls between 6 months and 6 years of age, this condition occurs wherein the labia grow together instead of as 2 separate folds, thereby blocking the opening of the vagina. It is caused by conditions such as repeated diaper rash, urine and stool infections, and sexual abuse. The condition often spontaneously corrects or responds to the application of estrogen cream    
labor uterine contractions resulting in cervical change (dilation and/or effacement). (revitalize)]]    
labor after cesarean labor in a woman who has had one or more previous cesarean births    
labor complication any unintended event during the labor process that makes delivery more difficult    
laboratory procedure any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting    
laboratory test result the outcome of a laboratory test    
labored breathing breathing that requires observed effort or an increased amount of energy    
labyrinthitis inflammation of the inner ear    
laceration a cut or tear in any tissue    
lack of adrenarche absent or incomplete development of adrenal androgen-mediated secondary sexual characteristics    
lacrimal mucocele a congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction    
lacrimal system disorder a non-neoplastic or neoplastic disorder that affects the lacrimal apparatus    
lactation suppression active suspension of lactation using a medical or physical intervention    
lactic acidosis metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia    
ladd band the presence of peritoneal attachments (bands) that obstruct the duodenum. The attachments result from malrotation of the large intestine. This abnormality is manifested with severe vomiting soon after birth or after the first feeding of the infant    
lamellar laceration of the globe traumatic injury to the globe, resulting in a partial thickness wound of the eyewall (cornea and/or sclera). (adapted from the birmingham eye trauma terminology system (betts))]]    
langer type mesomelic dysplasia an autosomal recessive condition caused by mutation (s) in the shox gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs    
langerhans cell histiocytosis a neoplastic proliferation of langerhans cells which contain birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, letterer-siwe disease, and hand-schuller-christian disease. The clinical course is generally related to the number of organs affected at presentation. (who, 2001)]]   histiocytosis x]]
language disorder a category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect    
lanugo fine downy hair that covers the body of a human fetus beginning in the fifth month of gestation; it is usually shed by the ninth month of gestation    
large for gestational age a fetus or infant who is larger than expected for the age or gender, or who has a birth weight greater than the 90th percentile    
large intestine atresia a malformation characterized by the absence of a normal opening in a part of the large intestine    
larger axis of placenta the length, in cm, of the longest axis of the chorionic disc    
larnygeotracheoesophageal cleft a rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight    
laron syndrome growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the ghr gene, encoding the growth hormone receptor    
laryngeal agenesis a congenital deformity in which there is no laryngeal structure    
laryngeal atresia a congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation    
laryngeal stenosis narrowing of the laryngeal airway    
laryngeal tube a supraglottic airway device    
laryngeal web tissue that develops between the vocal cords    
laryngitis an acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness    
laryngomalacia increased collapsibility of the larynx    
laryngospasm paroxysmal spasmodic muscular contraction of the vocal cords. It is brief, usually lasting for less than one minute, interrupting the speech and breathing and may produce a high-pitched breathing sound. It may occur under anesthesia or may be associated with gastroesophageal reflex disease    
lassa fever a viral hemorrhagic fever that is caused by the lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss    
lassitude physical or mental fatigue    
lasso-o measuring tape a measuring tape frequently used to measure head circumference in newborns    
last menstrual period the first day of the female's last menstrual cycle    
last screening the most recent screening    
late adolescence a human life stage that begins at nineteen years of age and continues until twenty-one complete years of age. This phase includes the final stages of pubertal growth and development as well as the attainment of significant psycho-social milestones    
late disseminated lyme disease a late stage of lyme disease that may present in untreated patients months to years after a tick bite manifested with intermittent bouts of arthralgia, arthritis and neurologic complaints    
late fetal death death of a fetus at 16 weeks, 0 days to 19 weeks, 6 days of gestation    
late fetal heart rate deceleration a gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds    
late latent syphilis latent syphilis when infection was acquired more than twelve months previously    
late neonatal mortality death of live newborn between 7and 27 days after birth    
late postpartum hemorrhage excessive blood loss between 24 hours after delivery through four weeks that requires intervention    
late preterm birth birth when a fetus is between 34 weeks and 0 days through 36 weeks and 6 days gestational age    
late preterm infant a newborn infant greater than or equal to 34 weeks, 0 days and less than 37 weeks, 0 days gestational age    
late prosthetic valve endocarditis prosthetic valve endocarditis that occurs several months to years following valve replacement    
late relapse clinical and/or laboratory evidence of late reemergence of a disorder after a period of remission    
late relapse of acute lymphoblastic leukemia clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia greater than or equal to 18 months (extramedullary) or 36 months (marrow) from diagnosis    
late term birth birth at 41 weeks and 0 days through 41 weeks and 6 days    
latent phase of labor from the onset of labor to the onset of the active phase. (revitalize)]]    
latent syphilis a stage of syphilis characterized by the serologic evidence of infection by treponema pallidum without evidence of accompanying signs or symptoms related to the disease    
leakage of amniotic fluid the discharge of amniotic fluid vaginally due to a tear or rupture in the amniotic membrane    
learning disorder a group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect    
left ear the organ of hearing located on the left side of the head    
left ventricular dysfunction impairment of the left ventricle to either fill or eject adequately    
left ventricular outflow tract obstruction obstruction of the left ventricular outflow tract. It is caused by aortic valve, supravalvar, or subvalvar defects    
legionella pneumonia a pneumonia caused by legionella pneumophila and other legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations    
legionellosis any disease caused by legionella bacteria    
leigh disease an inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial dna or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures    
leishmaniasis a parasitic infection caused by protozoa of the genus leishmania. It is transmitted to humans via the bite of sandflies. There are three main forms of the disease: cutaneous, mucocutaneous, and visceral leishmaniasis. Cutaneous leishmaniasis causes skin ulcers; mucocutaneous leishmaniasis causes destructive lesions of the mucous membranes of the nose, mouth, and throat; visceral leishmaniasis is the most severe form of the disease and is manifested with anemia, weight loss, hepatomegaly and splenomegaly    
length the linear extent in space from one end of something to the other end, or the extent of something from beginning to end    
lennox-gastaut syndrome a syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems    
leopard syndrome a genetic syndrome caused by mutations in the ptpn11 and raf1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness    
leprosy a bacterial granulomatous infection caused by mycobacterium leprae. It is a progressive disease affecting the skin, peripheral nerves, and limbs. If untreated, it causes permanent tissue damage leading to autoamputations    
leptin deficiency deficiency of the adipose tissue-derived peptide hormone leptin, associated with loss-of-function mutation(s) in the lep gene    
leptin receptor deficiency deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the lepr gene    
leptospirosis nephropathy interstitial nephritis due to leptospira, which may be associated with non-oliguric acute kidney injury    
leri-weill syndrome a bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the shox gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement    
lethargy decreased consciousness characterized by mental and physical inertness    
leukemia a malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years    
leukemoid reaction a hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear    
leukemoid reaction of the newborn increased white blood cell count and increased neutrophil precursors resembling leukemia in a neonate or fetus. Often, this is a response to medications received, infection or down syndrome    
leukocytosis a laboratory test result indicating an increased number of white blood cells in the peripheral blood    
leukoderma localized loss of skin pigmentation, often in patches    
leukonychia any white discoloration of the nails or nail plates    
leukopenia a laboratory test result indicating a decreased number of white blood cells in the peripheral blood    
leukoplakia a white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition    
levo-transposition of the great vessels an acyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery    
leydig cell tumor a sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of leydig cells which may contain crystals of reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course    
lichenification thickening and hardening of the skin associated with chronic inflammation or irritation    
lichenoid drug eruption a red or violaceous flat-topped, papular eruption that is induced by exposure to a variety of medications or environmental agents    
lid retraction abnormal superior displacement of resting upper lid margin or abnormal inferior displacement of resting lower lid margin    
liddle syndrome an autosomal dominant inherited syndrome caused by dysregulation of the amiloride-sensitive sodium channel. It is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin and hypoaldosteronism    
life stage a designation assigned to a particular period during a life cycle, generally defined by chronological parameters    
limited cutaneous systemic sclerosis a variant of systemic sclerosis characterized by calcinosis, raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia    
linear scleroderma a type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area    
lingual thyroid gland ectopic thyroid gland located at the base of the tongue    
lipid metabolism disorder an inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production    
lipodystrophy a congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body    
lipoma a benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue    
lissencephaly a rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms    
lithium - induced nephropathy kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus    
lithium-induced birth defects congenital abnormalities, mainly cardiovascular malformations, which develop in a fetus when the mother uses lithium medication during pregnancy    
live attenuated influenza vaccine a vaccine that contains live attenuated influenza virus (laiv) particles. This vaccine is administered intranasally for influenza prophylaxis. Not all populations are good candidates for laiv; the very young, elderly, asthmatics and those with health impaired may be better treated with the trivalent inactivated vaccine that is administered intramuscularly    
live birth the complete expulsion or extraction from the mother of a fetus, irrespective of the duration of pregnancy, which, after such expulsion or extraction, breathes or shows any other evidence of life, such as beating of the heart, pulsation of the umbilical cord, or definite movement of voluntary muscles    
liver abscess a bacterial, parasitic, or fungal abscess that develops in the liver. It is usually the result of an abdominal infection, trauma, or surgery in the right upper quadrant. Signs and symptoms include abdominal pain, nausea, vomiting, and fever    
local anesthesia procedure the temporary suppression of sensation at a specific region of the body by pharmacological intervention. This type of anesthesia does not induce unconsciousness in the patient    
localized corticosteroid treatment with a corticosteroid formulation designed for delivery locally and specified by site of administration (intraarticular, topical, or inhaled)    
localized scleroderma a chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. Localized scleroderma typically affects the skin, with formation of patches or lines of thick and unyielding tissue; there can be muscle and underlying tissue involvement as well as occasional joint complications. The affected areas of skin can be restrictive and disfiguring. The shape, depth and location of the affected area is used to classify one of the four types of local scleroderma. An individual can have a combination of localized scleroderma types    
loiasis infection by the african eye worm, loa loa    
long qt syndrome a ventricular arrhythmia characterized by a long qt interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the q-t interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death    
long-chain acyl-coa dehydrogenase deficiency a genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme a dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy    
loose stool frequent, loose, and watery stools are noted in most infants, even if they are fed formula, until they are six to eight weeks old; after that, the stools become firmer and less frequent    
lordosis abnormally increased curvature of the lumbar portion of the spinal column    
loss of consciousness an inability to purposefully respond to stimuli    
louse-borne relapsing fever an infection that is caused by certain species of rickettsia or borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated    
low anorectal malformation congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula    
low birth weight a birth weight that is less than 2500 grams    
low blood oxygen saturation a low level of the degree to which oxygen is bound to hemoglobin given as a percentage calculated by dividing the maximum oxygen capacity into the actual oxygen content and multiplying by 100. Oxygen saturation usually is measured using pulse oximetry    
low complement a decreased amount of complement (e.G. C3, c4, ch50) as determined through quantitative measurement. May be due to a genetic deficiency or from overconsumption due to an infection or a co-morbid autoimmune disorder    
low natural killer cell activity a decrease in the ability of peripheral mononuclear blood cells to lyse mhc I deficient target cells either due to low numbers of natural killer cells, or a reduction of their lytic activity    
low t3 syndrome reduced serum concentration of tri-iodothyronine caused by a variety of non-thyroidal conditions in which there is no dysfunction in the thyroid gland or the hypothalamic-pituitary axis    
low test reference range reported low limit of the test reference range    
low vision reduced ability to perceive visual stimuli    
low weight gain in pregnancy in a woman with a normal weight pre-pregnancy body mass index (bmi), I.E. 18.5-24.9, the weight gained during pregnancy does not exceed a total weight gain of 25 lbs. In a woman with an underweight pre-pregnancy body mass index (bmi), I.E. Less than 18.5, the weight gained during pregnancy does not exceed a total weight gain of 28 lbs. In a woman with an overweight pre-pregnancy body mass index (bmi), I.E. 25.0-29.9, the weight gained during pregnancy does not exceed a total weight gain of 15 lbs. In a woman with an obese pre-pregnancy body mass index (bmi), I.E. Greater than 30, the weight gained during pregnancy does not exceed a total weight gain of 11 lbs. These standards are supported for the whole population irrespective of height, race or ethnicity    
low-lying placenta a condition in which the placental edge is within 2 cm of but not covering the cervical os    
lumbar meningocele a congenital abnormality in the lumbar region of the spine in which the meninges protrude through a defect in the spinal column    
lumbar myelocele herniation of spinal cord tissue and meninges through a defect in the lumbar region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface    
lumbar myelomeningocele a congenital abnormality in the lumbar region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface    
lung disorder a non-neoplastic or neoplastic disorder affecting the lung. Representative examples of non-neoplastic disorders include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic disorders include benign processes (e.G., respiratory papilloma) and malignant processes (e.G., lung carcinoma and metastatic cancer to the lung)    
lung overinflation abnormal permanent enlargement of the lung air spaces distal to terminal bronchiole not resulted from wall destruction, e.G. Due to loss of opposite lung    
lupus anti-coagulant antibody antibodies directed against plasma proteins (such as beta-2-glycoprotein I, prothrombin, or annexin v) bound to anionic phospholipids. The anticoagulant blocks in vitro assembly of the prothrombinase complex, resulting in prolongation of in vitro clotting assays such as the activated partial thromboplastin time, the russell viper venom time, and others. Paradoxical to these changes which suggest impaired coagulation, patients with the lupus anticoagulant have an increase in thrombotic events    
lupus anticoagulant disorder a hypercoaguable state that results from the presence of the immunoglobulin known as lupus anticoagulant. The antibody interacts with cell membrane phospholipids, causing increased aggregation and adhesion of platelets, which causes increased clot formation. Though the majority of patients who test positive for lupus anticoagulant do not have lupus, those individuals afflicted with lupus have a higher probability of developing the antibody    
lupus erythematosus an autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus    
lupus erythematosus tumidus a dermatologic manifestation of lupus involving edematous papules and plaques that are typically found on sun-exposed areas of the body. It most often resolves without scarring or pigmentation changes    
lupus flare an exacerbation of the chronic disease lupus    
lupus glomerulonephritis glomerulonephritis in the context of systemic lupus erythematosus    
lupus headache a severe, persistent headache that occurs in patients with systemic lupus erythematosus, and is nonresponsive to narcotic analgesia    
lupus panniculitis a condition primarily affecting the subcutaneous adipose tissues, showing firm nodules that often resolve with lipoatrophy. There can be overlying changes of discoid lupus erythematosus. A skin biopsy showing lobular panniculitis with typical changes of lupus is needed to rule out other causes of panniculitis, including subcutaneous panniculitis-like t-cell lymphoma    
luteinizing hormone deficiency subnormal concentration of luteinizing hormone    
lyme arthritis joint inflammation, most often affecting large joints, associated with lyme disease, presenting months after infection    
lyme disease an infectious disease caused by the spirochete borrelia burgdorferi. Early manifestations of infection may include fever, headache, fatigue, depression, and a characteristic skin rash called erythema migrans. Left untreated, late manifestations involving the joints, heart, and nervous system can occur    
lymphadenitis acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process    
lymphadenopathy an enlarged lymph node. Causes include viral and bacterial infections and cancers that affect the lymph nodes    
lymphangioma a benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation    
lymphatic filariasis a clinical disorder that is caused by obstruction of the lymphatic system years after filarial infection. It is characterized by painful and profound lymphedema, resulting in significant swelling (elephantiasis) of extremities and genitals    
lymphocytic neurohypophysitis an autoimmune condition affecting the posterior pituitary gland, which is characterized by lymphocytic infiltration, and which often presents as diabetes insipidus    
lymphocytopenia an abnormally small number of lymphocytes in the circulating blood    
lymphocytosis a laboratory test result indicating an abnormal increase in the number of lymphocytes in the peripheral blood, effusions, or bone marrow    
lymphoma a malignant (clonal) proliferation of b- lymphocytes or t- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes non-hodgkin lymphomas and hodgkin lymphomas    
lysosomal acid lipase deficiency a very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the lipa gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands    
lysosomal storage disorder a group of autosomal recessive or x-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include gaucher disease, niemann-pick disease, wolman disease, and fabry disease    
macrocephaly an abnormal increase in head circumference, which can have a variety of causes, including hydrocephalus, enlarged brain, and cranial hyperostosis    
macrocytic anemia anemia that is characterized by increased red blood cell volume    
macronodular adrenal hyperplasia adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter    
macrophage activation syndrome a complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of t lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms    
macropsia an alteration in visual perception that causes objects to appear larger than their actual size    
macrosomia a newborn infant who has a weight at birth greater than 4500 grams    
macular edema accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision    
macular rash an outbreak of small, flat, red spots on the skin    
macule a flat lesion characterized by change in the skin color    
magnesium ammonium phosphate urolithiasis urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate    
maiden name a woman's surname before marriage    
majeed syndrome an autoinflammatory disease caused by mutations in the lpin2 gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and inflammatory dermatosis    
major depressive episode with peripartum onset a type of clinical depression that occurs after childbirth    
malabsorption inadequate absorption of nutrients in the small intestine    
malabsorption syndrome a syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea    
malaise a feeling of general discomfort or uneasiness, an out-of-sorts feeling    
malar rash an erythematous eruption on the central face, which can be caused by a variety of different conditions    
malaria a protozoan infection caused by the genus plasmodium. There are four species of plasmodium that can infect humans: plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia    
male a person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both    
male circumcision surgical removal of the penile foreskin    
male reproductive system disorder a non-neoplastic or neoplastic disorder that affects the male genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, and undescended testis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma    
malignant brain tumor a primary or metastatic malignant neoplasm affecting the brain    
malignant childhood central nervous system neoplasm malignant neoplasms which occur in the brain, spinal cord, or meninges of children.  brainstem gliomas, medulloblastomas, ependymomas, and certain pineal tumors are relatively common primary malignant tumors of the cns in children    
malignant hypertensive nephropathy hypertensive nephropathy secondary to malignant hypertension    
malignant hyperthermia a rare disorder characterized by rapid rise of the body temperature, accompanied by rhabdomyolysis and, if untreated, by collapse and death. It occurs in susceptible individuals who receive certain drugs for general anesthesia, gas anesthetics, or succinylcholine. It may be inherited in an autosomal dominant pattern    
malunion faulty healing of bone, resulting in improper anatomical alignment    
manic mood an emotional state characterized by marked to extreme elevation of mood with noticeable effect of functioning    
mannosidosis a rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-d-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections    
mantoux tuberculin skin test a tuberculin skin test where a standard dose of 5 tuberculin units of purified protein derivative is injected under the skin of the inner surface of the forearm. Results are read 48-72 hours later    
manual fetal rotation a procedure during labor in which the occiput is manually rotated from posterior to anterior    
manual muscle testing a graded muscle strength measurement performed as part of a physical examination without the need for specialized equipment    
maple syrup urine disease an autosomal recessive inherited disorder caused by mutations in the bckdha, bckdhb, dbt, and dld genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death    
marburg hemorrhagic fever a viral infectious disorder caused by marburg virus. Signs and symptoms include fever, headache, myalgias, chest and abdominal pain, jaundice, liver failure, massive hemorrhaging, and multiple organ failure    
marfan syndrome a genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the fbn1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens    
marginal cord insertion the location of the umbilical cord insertion at the disc edge    
marginal insertion of fetal membranes an observation that the fetal membranes are inserted at the edge of the placental disc    
marked baseline fetal heart rate variability a baseline fetal heart rate with an amplitude range that is greater than 25 beats per minute    
mass a benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammatory cells, or cystic changes    
mastitis inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection    
mastoiditis inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process    
matched related donor a donor who is related to the transplant recipient, and who is a human leukocyte antigen (hla) tissue type match    
matched unrelated donor a donor who is not related to the transplant recipient, but who is a human leukocyte antigen (hla) tissue type match    
maternal diabetes and deafness syndrome a maternally inherited condition characterized by diabetes and sensorineural deafness with onset after the age of 20, caused by mutation(s) in one of several mitochondrial genes, most frequently the mt-tl1 gene, which encodes the mitochondrial transfer rna for leucine. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms    
maternal hypotension a symptomatic decrease in baseline systolic or diastolic blood pressure in a pregnant woman that requires intervention    
maternal life stage the period of time during a female's reproductive years that she functions as a mother    
maternal mortality the death of a woman while pregnant or within 42 days of the end of the pregnancy, irrespective of the duration or anatomic site of the pregnancy, due to any cause related to or aggravated by the pregnancy or its management, but not from accidental or incidental causes    
maternal postnatal stage the stage in the life of a mother after she has given birth    
maternal preconception stage the stage in the life of a female during which she is attempting to get pregnant    
maternal prenatal stage the stage in the life of a mother during which she is pregnant    
maternal proteinuria the presence of excessive protein, chiefly albumin but also globulin, in the urine of a pregnant woman    
maternal uniparental disomy chromosome 14 syndrome a cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father    
maternal weight gain in pregnancy the last recorded maternal weight prior to birth minus the last recorded weight immediately prior to pregnancy. (revitalize)]]    
maturation the act, or process, of natural progression in physical and psychological maturation from a previous, lower, or embryonic stage to a later, more complex, or adult stage    
mauriac syndrome a complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and cushingoid features    
may-hegglin anomaly an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the myh9 gene    
mayer-rokitansky-kuster-hauser syndrome a rare syndrome of unknown cause that occurs in females. It is characterized by underdeveloped or absent vagina and uterus in an otherwise phenotypically normal female with a normal 46,xx karyotype. Other abnormalities include unilateral renal agenesis, skeletal abnormalities, hearing loss, and heart defects    
mccune albright syndrome a syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity.  it is caused by mutations within the gnas genetic locus    
measles a highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (mmr)    
measles/mumps/rubella vaccine a trivalent vaccine containing live attenuated viruses that can cause measles, mumps and rubella. It is an injection administered subcutaneously in two separate doses    
measurement of hemoglobin c the determination of the amount of hemoglobin c present in a sample    
meatal stenosis a narrowing of the opening of the urethra at the external meatus    
meckel-gruber syndrome a rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations    
meckel's diverticulum a congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction    
meconium the newborn's first intestinal discharge. It is a dark-green, thick substance composed of mucus, intestinal secretions, hair, and intestinal mucosa cells    
meconium aspiration syndrome a serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date    
meconium ileus small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine    
meconium peritonitis inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging    
meconium plug syndrome a transient colonic dysfunction in the newborn characterized by the delayed passage of meconium and associated intestinal dilatation    
meconium stained amniotic fluid presence of meconium into amniotic fluid    
mediastinal mass a mass present in the mediastinal space    
mediastinitis an inflammatory process affecting the mediastinum    
medical device dislodged a medical device that was placed properly, but which has moved from the intended location    
medical device failure a medical device that is no longer functioning    
medical device malfunction a medical device that is functioning incorrectly    
medical device misplaced a medical device that was placed in an unintended location    
medical record number an identifying number within an institution that is used to reference a subject's medical information    
medication administered at birth pharmacologic agents administered to a neonate at birth    
medium-chain acyl-coa dehydrogenase deficiency a genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme a dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy    
medullary cystic kidney disease type I an inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the muc1 gene, which encodes mucin 1    
medullary cystic kidney disease type ii an inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the umod gene, which encodes uromodulin/tamm-horsfall mucoprotein    
medullary sponge kidney a developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones    
medullary thyroid carcinoma a neuroendocrine carcinoma arising from the c-cells of the thyroid gland.  it is closely associated with multiple endocrine neoplasia syndromes.  approximately 10% to 20% of medullary thyroid carcinomas are familial.  patients usually present with a thyroid nodule that is painless and firm.  in the majority of cases nodal involvement is present at diagnosis.  surgery is the preferred treatment for both primary lesions and recurrences.  this carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy    
medulloblastoma a malignant, invasive embryonal neoplasm arising from the cerebellum or posterior fossa. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity    
medulloepithelioma a rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of c19mc amplification. Symptoms include headache, nausea, and vomiting    
megacalycosis isolated enlargement of renal calyces without obstruction    
megacystis - megaureter a condition characterized by a large capacity, thin-walled bladder and megaureter(s)    
megaloblastic anemia anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin b12 or folic acid deficiency. Other causes include toxins and drugs    
megaloblastic anemia 1 an autosomal recessive disorder caused by mutations in the cubn or amn genes. It is characterized by vitamin b12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth)    
megaureter enlargement of the diameter of the ureter, which can be partial or complete    
melanocortin 4 receptor deficiency deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the mcfr4 gene    
melanocortin pathway defects an abnormality in the biochemical pathway involving the melanocortins, a group of peptide hormones associated with anorexogenic signaling in the brain and hypothalamus    
melanoma a malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain    
melasma symmetrical patches of tan or brown discoloration on the skin of the face that darken with sun exposure    
melena abnormally dark tarry feces containing blood, usually from gastrointestinal bleeding    
melena neonatorum abnormally dark tarry feces containing blood, usually due to gastrointestinal bleeding or swallowed maternal blood in neonates    
melioidosis an infection that is caused by burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration    
membranoproliferative glomerulonephritis inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli    
membranoproliferative glomerulonephritis type 3 (aq) glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (mpgn) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy   mesangiocapillary glomerulonephritis type 3]]
membranous lupus nephritis membranous nephritis associated with systemic lupus erythematosus    
membranous nephropathy a slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome    
membranous nephropathy - autoimmune disorder associated membranous nephropathy associated with an autoimmune disorder    
membranous nephropathy - drug associated membranous nephropathy associated with exposure to a drug    
membranous nephropathy - idiopathic membranous nephropathy for which no cause has been identified    
membranous nephropathy - infection associated membranous nephropathy associated with infectious disease    
membranous nephropathy - malignancy associated membranous nephropathy in the context of malignancy    
membranous nephropathy - nep induced membranous nephropathy due to neural endopeptidase (nep) antibodies    
membranous nephropathy - pla2r induced membranous nephropathy due to phospholipase 2 receptor (pla2r) antibodies    
membranous nephropathy - secondary membranous nephropathy due to another medical condition    
membranous nephropathy - thsd7a induced membranous nephropathy due to thrombospondin type-1 domain-containing protein 7a (thsd7a) antibodies    
meningioma a generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are who grade I tumors, and some are who grade ii or iii tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (adapted from who)]]    
meningismus the symptoms of neck stiffness, headache, and photophobia resulting from meningeal irritation. Causes include subarachnoid hemorrhage and acute febrile diseases    
meningitis a disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord    
meningococcal conjugate vaccine mcv4 a conjugate vaccine of meningococcal polysaccharide used for active immunization against invasive meningococcal disease caused by neisseria meningiditis serogroups a, c, y, and w-135    
meningococcal polysaccharide vaccine mpsv4 a polysaccharide vaccine used to prevent contraction of meningococcal meningitis    
meningoencephalitis inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan    
menkes disease an x-linked disorder caused by mutations in the atp7a gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair    
menorrhagia heavy bleeding during regular menstruation    
menstrual problem a category of conditions related to menses    
mental and behavioral signs and symptoms clinical evidence of disease resulting from mental and/or behavioral dysfunction    
mental development index a sequential arrangement of information pertaining to the evolution of an individual's cognitive development    
mental retardation a developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18    
mental scale a range of values that characterizes an individual's mental development    
mesangial proliferative glomerulonephritis a focal inflammation of glomeruli secondary to mesangial cell proliferation and matrix deposition within the mesangium    
mesenteric abscess an abscess that is located in any part of the tissue composing the mesentery, and that generally arises from an infection in an adjacent area of the intestine    
mesomelic dysplasias a form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (I.E., the radii, ulnae, tibiae and fibulae)    
metabolic acidosis increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock    
metabolic alkalosis abnormally increased ph levels in the blood due to excessive loss of acid and/or accumulation of base    
metabolic bone disease a group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin d. Representative examples are osteomalacia, osteoporosis, and paget disease    
metabolic bone disease of prematurity rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays    
metabolic disease a congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process    
metabolic myopathy a group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction    
metagonimiasis an infection that is most commonly caused by the intestinal fluke metagonimus yokogawai, which is most commonly found in the far east, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection    
metaphyseal chondrodysplasia, jansen type a form of metaphyseal chondrodysplasia caused by mutation(s) in the pth1r gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to pth resistance can appear later in childhood    
metastatic childhood soft tissue sarcoma a sarcoma that arises from the soft tissues during childhood and has spread from the original site of growth to another anatomic site    
methemoglobin reductase deficiency less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin    
methemoglobinemia an inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood    
methicillin-resistant staphylococcus aureus infection a bacterial infection that is caused by staphylococcus aureus and is resistant to methicillin treatment    
methicillin-resistant staphylococcus aureus pneumonia pneumonia that is caused by staphylococcus aureus and is resistant to methicillin treatment    
methylcrotonyl-coa carboxylase deficiency an autosomal recessive inherited disorder caused by mutations in the mccc1 or mccc2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma    
methylmalonic acidemia a rare autosomal recessive inherited disorder caused by mutations of the mut, mmaa, mmab, mmadhc, and mcee genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease    
mevalonate kinase deficiency a very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy    
microbe a microscopic organism. The term microorganism may refer to a prokaryote or eukaryote, and may be a unicellular or multicellular organism. All taxonomic kingdoms contain microorganisms    
microcephaly a congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex    
microcolon a rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development    
microcystic renal disease a congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla    
microcytic anemia anemia in which the red blood cell volume is decreased    
micrognathism a congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes    
microgyria a congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation    
microinternational unit per milliliter unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one millionth of international unit per one milliliter of system volume    
micronodular adrenal hyperplasia adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually less than one centimeter in diameter    
microphthalmos a congenital abnormality characterized by the presence of an abnormally small eye globe    
micropsia an alteration in visual perception that causes objects to appear smaller than their actual size    
microscopic polyangiitis a systemic necrotizing vasculitis that typically affects the small and medium-sized muscular arteries. In some cases, however, microscopic vessels are also affected (e.G., in the kidneys), a condition that has been called microscopic polyarteritis or polyangiitis; this disorder is felt to be more closely associated with wegener granulomatosis than to classic polyarteritis nodosa   microscopic polyarteritis]]
microsporidiosis a fungal infection caused by microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting    
middle childhood a human life stage that begins at six years of age and continues until eleven complete years of age    
middle east respiratory syndrome a viral respiratory infection that is caused by the mers coronavirus (mers-cov), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome    
migraine a common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity    
migraine with aura a migraine disorder characterized by episodes that are preceded by focal neurological symptoms    
migraine without aura a migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms    
migraine-triggered seizure a seizure triggered by a migraine    
migrainous infarction migraine associated with an ischemic brain lesion    
migratory arthritis a form of reactive arthritis in which the inflammation moves between joints    
mild bronchopulmonary dysplasia a chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with mild bpd, there is no supplemental oxygen requirement at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with mild bpd, there is no supplemental oxygen requirement at 56 days post-natal age or at earlier discharge    
milia small (one to two mm), firm, white cysts on the skin    
miliaria a small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands    
milligram per deciliter a unit of mass concentration defined as the concentration of one milligram of a substance in unit volume of the mixture equal to one cubic deciliter or 100 cubic centimeters. It is also a unit of mass density (volumic mass) defined as the density of substance which mass equal to one milligram occupies the volume one cubic deciliter or 100 cubic centimeters    
millimole per liter a unit of concentration (molarity unit) equal to one thousandth of a mole (10e-3 mole) of solute per one liter of solution    
miniature adult form of ahc an autosomal recessive or sporadic form of adrenal hypoplasia congenita frequently associated with central nervous system anomalies including anencephaly and pituitary defects. Histologically the adrenal gland is distinguished by the absence of fetal adrenal cortex and the presence of a small amount of normal, permanent adult adrenal cortex    
minimal baseline fetal heart rate variability a baseline fetal heart rate with a detectable amplitude range that is greater than undetectable but less than or equal to five beats per minute    
minimal change disease a glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome   nil disease]]
mismatched unrelated donor a donor who is not related to the transplant recipient, and who is not a human leukocyte antigen (hla) tissue type match at one or more of the following loci: hla-a, hla-b, hla-c, and hla-drb1    
missed abortion retention in uterus of an abortus    
mitochondrial diabetes diabetes mellitus caused by mutation(s) in mitochondrial dna    
mitochondrial encephalomyopathy, lactic acidosis and stroke a rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes    
mitochondrial enzyme deficiency a constellation of disorders whose common thread is the insufficient quantity of one or more mitochondrial enzymes    
mitochondrial hydroxyacyl-coenzyme a dehydrogenase hyperinsulinism hyperinsulinism due to inactivating mutation(s) in the gene hadh, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme a dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (gdh). This condition is also characterized by protein-induced hypoglycemia, but in contrast to glud1-associated hyperinsulinism, hyperammonemia is absent    
mitochondrial myopathy myopathy caused by mitochondrial abnormalities    
mitochondrial trifunctional protein deficiency a rare, autosomal recessive inherited disorder caused by mutations in the hadha and hadhb genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death    
mitochondrial uncoupling protein 2 hyperinsulinism hyperinsulinism due to mutation(s) in the gene ucp2, encoding mitochondrial uncoupling protein 2, which plays a role in attenuating insulin secretion    
mitral valve atresia a congenital heart defect characterized by the complete atresia of the mitral valve    
mitral valve regurgitation the backward flow of blood from the left ventricle into the left atrium, owing to insufficiency of the mitral valve; it may be acute or chronic, usually due to mitral valve prolapse, rheumatic heart disease or a complication of cardiac dilatation    
mitral valve stenosis narrowing of the left atrioventricular mitral orifice    
mixed cerebral palsy a subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy    
mixed congenital mesoblastic nephroma a congenital mesoblastic nephroma characterized by the presence of classic and cellular areas    
mixed connective tissue disease an autoimmune overlap syndrome characterized by the presence of symptoms of systemic lupus erythematosus, systemic scleroderma, and polymyositis    
mixed epithelial and mesenchymal hepatoblastoma a hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component    
mixed germ cell-sex cord-stromal tumor a biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable    
mixed hearing loss hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear    
mixed morphea the presence of more than one variant of morphea in a single patient    
mixed phenotype acute leukemia an acute leukemia of ambiguous lineage.  it is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage    
mixed somatolactotrope adenoma an infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively.  unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry    
mll gene rearrangement a molecular abnormality indicating rearrangement of the kmt2a gene    
mmih syndrome a rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract    
mobius syndrome a very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally    
modality a specific manner, characteristic, pattern of application or the employment of, any therapeutic agent or method of treatment, especially involving the physical treatment of a condition    
mode of transmission the process by which an infection is transmitted to a person    
moderate baseline variability a baseline fetal heart rate with a detectable amplitude range that is greater than or equal to 6 but less than or equal to 25 beats per minute    
moderate bronchopulmonary dysplasia a chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with moderate bpd, there is a supplemental oxygen requirement of less than 30% at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with moderate bpd, there is a supplemental oxygen requirement of less than 30% at 56 days post-natal age or at earlier discharge    
molar ratio the relative number of moles of one substance to another in a chemical reaction    
monkeypox an infection that is caused by an orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks    
monocarboxylate transporter 1 hyperinsulinism hyperinsulinism due to mutation(s) in the regulatory region of the slc16a1 gene, encoding monocarboxylate transporter 1 (mct1). The mutation(s) result in aberrant expression of mct1 in the beta cell, leading to inappropriate insulin secretion and hypoglycemia triggered by anaerobic exercise    
monocarboxylate transporter 8 deficiency a rare, x-linked recessive inherited syndrome caused by mutations in the slc16a2 (mct8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity    
monochorionic diamniotic twin pregnancy a pregnancy involving two fetuses that share the same chorion but have separate amniotic sacs    
monochorionic monoamniotic twin pregnancy a pregnancy involving two fetuses that share both the chorion and amniotic sac. These twins are invariably identical    
monocular diplopia perception of more than one image when viewing with one eye    
monocytopenia abnormally low level of monocytes in the blood    
monocytosis abnormally high level of monocytes in the blood    
monogenic diabetes diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood   maturity onset diabetes of the young]]
monogenic hyperinsulinism a genetically heterogenous group of hyperinsulinemic conditions caused by mutation(s) in one of the many genes involved in the regulation of insulin secretion    
monogenic obesity obesity associated with an identifiable mutation in a single gene    
monosomy 13q syndrome a rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation    
mood lability a condition of frequent mood changes associated with excessive emotional reactions    
moro reflex an involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexing the fingers and toes    
motor deficits loss of movement function    
motor development the evolution of physical movement over an individual's lifespan    
motor developmental delay failure to meet, or late achievement of motor development milestones    
motor manifestations the presence of an alteration in the ability to move one's body or any body parts in accordance with one's intent    
motor restlessness an inability to be still and/or the need to move    
motor stereotypies persistent volitional repetition of non-purposeful movement    
motor tic a tic affecting muscle movement    
mottled color of placental parenchyma the variable or non-uniform coloring of the placental parenchyma indicating variable contribution of the blood contained within the fetal vessels to the color of the parenchyma    
mottling irregularly shaped, patchy discolorations in the skin    
movement disorders neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement    
movement of lip corners during examination of the newborn infant, the examiner looks for symmetric movement of the lip corners. Movement of the lip corners is governed by the zygomatic major muscle    
mtor inhibitor - induced nephropathy kidney damage resulting from exposure to mechanistic target of rapamycin (mtor) kinase inhibitors    
muckle-wells syndrome an autoinflammatory disease caused by mutations in the nlrp3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis    
mucocutaneous candidiasis a fungal infection of the skin, nails, oral and vaginal mucosal sites caused by species of the genus candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails    
mucopolysaccharidosis a group of autosomal recessive or x-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies    
mucormycosis any infection due to a fungus of the zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue    
mucosal ulcer a circumscribed loss of integrity of the mucous membrane    
mucositis inflammation of the mucous membranes    
mulibrey nanism an autosomal recessive inherited disorder caused by mutations in the trim37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain    
mullerian inhibiting factor deficiency a deficiency of the mullerian inhibiting substance, which is secreted by the sertoli cells during embryogenesis. It can result in unilateral or bilateral cryptorchidism, testicular regression syndrome and sterility    
mullerian-renal-cervical spine syndrome a condition characterized by mullerian duct aplasia, unilateral renal dysplasia, and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities (scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb malformations (brachymesophalangy, ectrodactyly). Heart malformations may include valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy of fallot. Putative candidate genes such as hnf1b (17q12), lhx1 (17q12), shox (xp22.33 and yp11.32), tbx6 ( 16p11.2), and itih5 (10p14) may be implicated    
multi-organ failure complete impairment of two or more organs or organ systems    
multi-organ involvement a finding indicating the spread of a neoplastic process to multiple organs    
multicystic dysplastic kidney abnormal development of the kidney that is characterized by atretic ureter, multiple cysts of different sizes that are separated by dysplastic parenchyma, and complete lack of function    
multidrug-resistant mycobacterium tuberculosis a strain of mycobacterium tuberculosis that is resistant to isoniazid and rifampin    
multidrug-resistant tuberculosis tuberculosis disease that is caused by a multidrug-resistant strain of mycobacterium tuberculosis    
multifocal multisystem langerhans cell histiocytosis a multifocal, multisystem form of langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia    
multifocal unisystem langerhans cell histiocytosis a multifocal, unisystem form of langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions    
multilobate placenta a variant placenta in which the chorionic tissue is partitioned into more than two distinct discs, without consistent relationship to umbilical cord insertion    
multinodular adrenal hyperplasia a subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules    
multinodular goiter nodular goiter characterized by more than one discrete tissue mass    
multiple endocrine neoplasia syndrome(s) an autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are three types recognized: type 1 (men 1), caused by inactivation of the tumor suppressor gene men-1, type 2a (men 2a), caused by mutation of the ret gene, and type 2b (men 2b) also caused by mutation of the ret gene. Patients with men 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with men 2a develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with men 2b develop medullary thyroid carcinomas and numerous neural defects including neuromas    
multiple endocrine neoplasia type 1 multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene men-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors   wermer syndrome]]
multiple endocrine neoplasia type 2a multiple endocrine neoplasia caused by mutation of the ret gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia    
multiple endocrine neoplasia type 2b multiple endocrine neoplasia caused by mutation of the ret gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas    
multiple gestation a pregnancy involving twins or higher-order multiple fetuses (e.G., triplets, quadruplets)    
multiple sclerosis a progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers    
mumps a contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease    
muscle contraction the process where thick (myosin) and thin (actin) filaments slide against each other to produce a shortening or tensing of the muscle cell or fiber    
muscle cramping a sustained, sudden and involuntary contraction of a muscle or group of muscles    
muscle rigidity an involuntary, persistent state of firm, tense muscles with marked resistance to passive movement    
muscle stiffness a feeling of tension or tightness in one or more muscles    
muscle tone score a component of the apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion    
muscle weakness a reduction in the strength of one or more muscles    
muscular dystrophy a group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include duchenne muscular dystrophy, becker's muscular dystrophy, emery-dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy    
musculoskeletal chest pain painful sensation in the chest wall region    
musculoskeletal finding symptoms, physical examination results, and/or laboratory rest results related to the muscles and bones    
musculoskeletal system disorder a category of diseases that involve muscles and bones    
myalgia painful sensation originating from a muscle or group of muscles    
myasthenia gravis a chronic autoimmune neuromuscular disorder characterized by skeletal muscle weakness. It is caused by the blockage of the acetylcholine receptors at the neuromuscular junction    
mycoplasmal pneumonia pneumonia caused by mycoplasma pneumoniae. Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain    
myelitis an inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence    
myeloablative conditioning a conditioning regimen with high doses of chemotherapy or radiation to eliminate host hematopoietic stem cells prior to restitution via transplantation    
myelocele herniation of spinal cord tissue through a defect in a region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface    
myelodysplastic syndrome a clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the who guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (who, 2001)]]    
myeloid sarcoma a tumor mass composed of myeloblasts or immature myeloid cells.  it occurs in extramedullary sites or the bone.  (who, 2001)]]    
myiasis the infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes    
myocardial infarction gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis    
myocarditis inflammation of the muscle tissue of the heart    
myoclonic jerk a sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases, including epilepsy, parkinson's disease, alzheimer's disease, or creutzfeldt-jacob disease    
myoclonus a rapid, involuntary jerk of a muscle or group of muscles    
myoglobinuria the presence of myoglobin in the urine    
myopathy a non-neoplastic disorder that affects the muscles. Representative examples include muscular dystrophy, metabolic myopathies, muscular atrophies, and dermatomyositis    
myositis an inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders    
myositis activities profile an assessment of disease-specific limitations of activities of daily living in patients with polymyositis and dermatomyositis    
myositis damage index a scoring system used to measure damage from myositis, complications of therapy, or other events    
myositis disease activity assessment tool a tool that assesses disease activity of extramuscular organ systems and muscle to assess patients with adult and juvenile dermatomyositis, polymyositis, and inclusion body myositis    
myotonic disorder an inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy    
myotonic dystrophy an inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies    
myotonic dystrophy 1 a rare autosomal dominant disorder caused by mutations in the dmpk gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts    
myotonic dystrophy 2 a rare autosomal dominant disorder caused by mutations in the cnbp gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities    
nadh dehydrogenase deficiency a rare metabolic disorder characterized by the deficiency of mitochondrial nadh dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy    
nail-patella syndrome a rare autosomal dominant syndrome caused by mutations in the lmx1b gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma    
nalp12-associated hereditary periodic fever syndrome an autoinflammatory disease caused by mutations in the nlrp12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month    
nanogram per deciliter a unit of mass concentration defined as the concentration of one nanogram of a substance per unit volume of the mixture equal to one deciliter. The concept also refers to the unit of mass density (volumic mass) defined as the density of substance which mass equal to one nanogram occupies the volume of one deciliter    
nasal congestion the blockage of the nasal passage due to mucosal edema. It is usually the result of a viral infection or an allergic reaction    
nasal endotracheal tube a hollow tube that is directed into the trachea from the nose    
nasal flaring enlargement of the nostrils during breathing; although there are many possible causes, it can be a sign of respiratory distress in young infants    
nasal route of administration administration of a drug by the way of the nose. This often results in systemic action of the agent due to absorption through the nasal mucosa. The richly supplied vascular nature of the nasal mucosa coupled with its high drug permeation makes the nasal route of administration attractive for many drugs, including proteins and peptides    
nasoduodenal tube a hollow tube that is directed into the duodenum from the nose    
nasogastric tube a hollow tube that is directed into the stomach from the nose    
nasojejunal tube a hollow tube that is directed into the jejunum from the nose    
nasopharyngitis an inflammatory process that affects the nasopharynx    
native valve endocarditis endocarditis affecting a native valve of the heart    
natural birth spontaneous labor and birth at term without the use of pharmacologic and/or mechanical interventions for labor stimulation or pain management throughout labor and birth. (revitalize)]]    
natural killer cell and glucocorticoid deficiency with dna repair defect a congenital condition characterized by growth retardation, a decreased number of nk cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the mcm4 gene    
nausea upper abdominal discomfort associated with an urge to vomit    
necrotizing enterocolitis a fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract    
necrotizing enterocolitis totalis a severe and often fatal form of necrotizing enterocolitis, in which diffuse ischemia, necrosis, and pneumatosis intestinalis are evident in the small and large intestine. Short bowel syndrome is common among survivors    
necrotizing fasciitis infection of the deep skin and subcutaneous tissues and necrosis of the fascia. It is caused by bacteria including group a streptococcus, staphylococcus aureus and clostridium perfringens. It may develop following trauma and invasive procedures    
necrotizing funisitis a ring of karyorrhectic debris that may exhibit dystrophic mineralization and/or identifiable fetal neutrophil infiltrate in wharton's jelly that is oriented towards the amniotic surface. The cord has a denser ring externally and a fainter ring centrally    
negative group b streptococcus risk status rectal/vaginal culture negative for group b streptococcus (gbs) within 5 weeks    
neisseria meningitidis a species of aerobic, gram-negative, diplococci shaped bacteria assigned to the phylum proteobacteria. This species is catalase and oxidase positive, non-hemolytic, non-pigmented, does not reduce nitrate or nitrite, does not synthesize polysaccharides, grows on blood, chocolate, or muller-hinton agar, and produces acid from glucose and maltose but not fructose, sucrose, mannose, or lactose. N. Meningitidis, known commonly as meningococcus, is the causative agent of cerebrospinal meningitis, but is also associated with other human infections, but can be commensal in the oropharynx and nasopharynx of carriers    
neonatal abstinence syndrome a constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors    
neonatal abstinence syndrome assessment the measurement of the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse; the score can be used to determine subsequent treatment of the infant    
neonatal acrocyanosis transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn    
neonatal adrenoleukodystrophy a rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma    
neonatal alloimmune thrombocytopenia thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens    
neonatal aspiration of amniotic fluid inhalation of fluid from the amniotic sac into the lungs by the neonate    
neonatal aspiration syndrome aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn    
neonatal candidiasis a fungal infection by any of the candida species in a newborn infant up to 28 days old    
neonatal conjunctivitis inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms    
neonatal dacryocystitis inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection    
neonatal death death of a live newborn during the first 28 days of life    
neonatal diabetes mellitus hyperglycemia in the newborn due to a defect in the secretion or function of insulin    
neonatal disorder a non-neoplastic or neoplastic disorder which occurs during the neonatal period    
neonatal disseminated intravascular coagulation a clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn    
neonatal drug withdrawal a constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure    
neonatal encephalopathy abnormal functioning of the central nervous system in the newborn period that may be due to a variety of etiologies including hypoxia/ischemia, metabolic disturbance, or infection    
neonatal graves disease graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody    
neonatal hepatitis hepatitis developing during the neonatal period    
neonatal herpes simplex infection infection in the first month of life caused by the herpes simplex virus    
neonatal hyperbilirubinemia increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities    
neonatal hyperglycemia blood glucose concentration above the upper limit of established reference ranges in a newborn    
neonatal hypoglycemia blood glucose concentration below the lower limit of established reference ranges in a newborn    
neonatal hypoxic ischemic encephalopathy injury to the central nervous system in the newborn period that occurs when there is insufficient delivery of oxygen to all or part of the brain    
neonatal infectious disorder an infectious disorder that occurs during the neonatal period. Representative examples include streptococcal infection, e.Coli infection, and bacterial meningitis    
neonatal jaundice jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma    
neonatal listeriosis a bacterial infection by listeria monocytogenes in a newborn infant up to 28 days old    
neonatal lupus erythematosus a self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, sjogren's syndrome, or rheumatoid arthritis    
neonatal neutropenia a condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn    
neonatal opiate withdrawal syndrome a constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids    
neonatal polycythemia a condition in which the red blood cell level is greater than established reference ranges in a newborn    
neonatal respiratory system disorder a respiratory system disorder that occurs during the neonatal period. A representative example is the respiratory distress syndrome    
neonatal seizure abnormal hypersynchronous electrical activity in the brain of a newborn which may be associated with stereotyped movements or autonomic changes    
neonatal sepsis an infectious disorder of newborn infants that is characterized by a systemic inflammatory response most commonly caused by bacteria    
neonatal sepsis, early-onset an infectious disorder of newborn infants that is characterized by a systemic inflammatory response within 72 hours of life and is most commonly caused by bacteria    
neonatal sepsis, late-onset an infectious disorder of newborn infants that is characterized by a systemic inflammatory response beyond 72 hours of life and is most commonly caused by bacteria    
neonatal severe primary hyperparathyroidism an autosomal recessive form of kenny-caffey syndrome that is secondary to mutation(s) in the tcbe gene that encodes tubulin-specific chaperone e; it is characterized by the following: hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space, cortical thickening and medullary stenosis of long bones, and small hands and feet    
neonatal spell cardiorespiratory events that are characterized by variable combinations of cessation of breathing, decrease in blood oxygen saturation, and decreased heart rate    
neonatal tetanus a syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from clostridium tetani toxin production    
neonatal thrombocytopenia a condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn    
neonatal thyrotoxicosis a hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins    
neonatal vaginal discharge secretions which may be thin or tenacious, mucoid or glairy, grayish or milky, occasionally blood tinged, that originate in the vagina and are a consequence of the residual influence of maternal estrogen    
neonatal-onset multisystem inflammatory disease a congenital autoinflammatory disorder that presents within a few days of birth and is characterized by a clinical triad of skin rash, chronic meningitis, and joint pain with recurrent fever and inflammation    
neoplasm a benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias    
nephritic syndrome a syndrome characterized by hematuria with dysmorphic red blood cells, red blood cell casts, and proteinuria; systemic manifestations may be present, including hypertension, edema, oliguria    
nephritis inflammation of renal tissue    
nephroblastoma an embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver    
nephrocalcinosis deposition of calcium in the renal parenchyma, resulting from high levels of calcium in the blood and/or urine    
nephrogenic diabetes insipidus diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone    
nephrogenic systemic fibrosis fibrosis of the skin, joints and other organs usually associated with gadolinium exposure in the setting of kidney failure    
nephronophthisis progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure    
nephropathy a term referring to any disease affecting the kidneys    
nephropathy associated with rhabdomyolysis nephropathy associated with rhabdomyolysis    
nephropathy due to aminoglycosides kidney damage resulting from aminoglycosides    
nephropathy due to amphotericin kidney damage resulting from amphotericin    
nephropathy due to analgesic drugs kidney damage resulting from analgesic drugs    
nephropathy due to ciclosporin kidney damage resulting from ciclosporin    
nephropathy due to cisplatin kidney damage resulting from cisplatin    
nephropathy due to tacrolimus kidney damage resulting from tacrolimus    
nephrostomy site a surgically created external opening into the renal pelvis    
nephrotic range proteinuria in children, urine protein greater than or equal to 40mg/m^2/h; alternatively, greater than or equal to 0.25gm/mmol creatinine or 2gm/gm creatinine obtained from a first morning specimen    
nephrotic syndrome a collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction    
nephrotic syndrome - actn4 associated nephrotic syndrome attributed to mutation(s) in the actn4 gene    
nephrotic syndrome - adck4 associated nephrotic syndrome attributed to mutation(s) in the adck4 gene    
nephrotic syndrome - anln associated nephrotic syndrome attributed to mutation(s) in the anln gene    
nephrotic syndrome - arhgap24 associated nephrotic syndrome attributed to mutation(s) in the arhgap24 gene    
nephrotic syndrome - arhgdia associated nephrotic syndrome attributed to mutation(s) in the arhgdia gene    
nephrotic syndrome - cd2ap associated nephrotic syndrome attributed to mutation(s) in the cd2ap gene    
nephrotic syndrome - cfh associated nephrotic syndrome attributed to mutation(s) in the cfh gene    
nephrotic syndrome - coq2 associated nephrotic syndrome attributed to mutation(s) in the coq2 gene    
nephrotic syndrome - coq6 associated nephrotic syndrome attributed to mutation(s) in the coq6 gene    
nephrotic syndrome - crb2 associated nephrotic syndrome attributed to mutation(s) in the crb2 gene    
nephrotic syndrome - cubn associated nephrotic syndrome attributed to mutation(s) in the cubn gene    
nephrotic syndrome - cytomegalovirus associated nephrotic syndrome associated with a cytomegalovirus infection    
nephrotic syndrome - dgke associated nephrotic syndrome attributed to mutation(s) in the dgke gene    
nephrotic syndrome - emp2 associated nephrotic syndrome attributed to mutation(s) in the emp2 gene    
nephrotic syndrome - epstein-barr virus associated nephrotic syndrome associated with epstein-barr infection    
nephrotic syndrome - frequently relapsing nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year    
nephrotic syndrome - hepatitis b virus associated nephrotic syndrome associated with hepatitis b    
nephrotic syndrome - hepatitis c virus associated nephrotic syndrome associated with a hepatitis c infection    
nephrotic syndrome - human immunodeficiency virus associated nephrotic syndrome associated with human immunodeficiency virus infection    
nephrotic syndrome - inf2 associated nephrotic syndrome attributed to mutation(s) in the inf2 gene    
nephrotic syndrome - infection associated nephrotic syndrome associated with an infectious process    
nephrotic syndrome - infrequently relapsing nephrotic syndrome in which there is a relapse occuring less than twice in the first six months, or less than four times in a year    
nephrotic syndrome - itga3 associated nephrotic syndrome attributed to mutation(s) in the itga3 gene    
nephrotic syndrome - itgb4 associated nephrotic syndrome attributed to mutation(s) in the itgb4 gene    
nephrotic syndrome - lamb2 associated nephrotic syndrome attributed to mutation(s) in the lamb2 gene    
nephrotic syndrome - lmx1b associated nephrotic syndrome attributed to mutation(s) in the lmx1b gene    
nephrotic syndrome - malaria associated nephrotic syndrome associated with malaria    
nephrotic syndrome - mefv associated nephrotic syndrome attributed to mutation(s) in the mefv gene    
nephrotic syndrome - myo1e associated nephrotic syndrome attributed to mutation(s) in the myo1e gene    
nephrotic syndrome - neil1 associated nephrotic syndrome attributed to mutation(s) in the neil1 gene    
nephrotic syndrome - nphs1 associated nephrotic syndrome attributed to mutation(s) in the nphs1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life    
nephrotic syndrome - nphs2 associated nephrotic syndrome attributed to mutation(s) in the nphs2 gene    
nephrotic syndrome - parvovirus b19 associated nephrotic syndrome associated with a parvovirus b19 infection    
nephrotic syndrome - pdss2 associated nephrotic syndrome attributed to mutation(s) in the pdss2 gene    
nephrotic syndrome - plce1 associated nephrotic syndrome attributed to mutation(s) in the plce1 gene    
nephrotic syndrome - ptpro associated nephrotic syndrome attributed to mutation(s) in the ptpro gene    
nephrotic syndrome - relapse nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission    
nephrotic syndrome - scarb2 associated nephrotic syndrome attributed to mutation(s) in the scarb2 gene    
nephrotic syndrome - simian virus 40 associated nephrotic syndrome associated with a simian virus 40 infection    
nephrotic syndrome - smarcal1 associated nephrotic syndrome attributed to mutation(s) in the smarcal1 gene    
nephrotic syndrome - syphilis associated nephrotic syndrome associated with a syphilis infection    
nephrotic syndrome - toxoplasmosis associated nephrotic syndrome associated with a toxoplasmosis infection    
nephrotic syndrome - trpc6 associated nephrotic syndrome attributed to mutation(s) in the trpc6 gene    
nephrotic syndrome - wt1 associated nephrotic syndrome attributed to mutation(s) in the wt1 gene    
nephrotic syndrome of childhood - steroid resistant nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids    
nephrotic syndrome of childhood - steroid sensitive nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids    
nephrotic syndrome- steroid dependent nephrotic syndrome characterized by two or more consecutive relapses during steroid tapering or within fourteen days of discontinuing steroids    
nephrotic syndrome-remission, partial remission nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment    
nervous system disorder a non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves    
nervous system finding symptoms, physical examination results, and/or laboratory test results related to the nervous system    
nervous system neoplasm a benign or malignant, primary or metastatic neoplasm involving the central or peripheral nervous system    
nesidioblastosis a sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia    
neural tube defect a congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida    
neuralgia intense painful sensation along a nerve or group of nerves. It is caused by irritation or trauma to a nerve or inflammation of a nerve    
neuritis inflammation of a nerve    
neuroblastoma a neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent schwannian stroma formation    
neurocysticercosis a parasitic infection with tapeworms of the genus taenia affecting the brain. It is manifested with seizures and headaches    
neurodermatitis skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin    
neurodevelopmental disorder a childhood disorder that has a neurological basis and manifests as a developmental disability    
neuroendocrine cell hyperplasia of infancy a form of interstitial lung disease characterized by increased numbers of pulmonary neuroendocrine cells, typically presenting in the first year of life with persistent tachypnea, retractions, crackles and hypoxemia that has a highly specific chest ct pattern that includes ground-glass opacities and air-trapping    
neuroendocrine tumor a benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma    
neurofibromatosis an autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas    
neurofibromatosis type 1 the most common type of neurofibromatosis.  it is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface.  they can vary markedly in size and color.  the dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas.  they can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures.  type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17    
neurogenic bladder malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.G., aids neuropathy and diabetic neuropathy)    
neurogenic differentiation factor 1-associated monogenic diabetes monogenic diabetes caused by inactivating mutation(s) in the gene neurod1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous neurod1 mutations result in permanent neonatal diabetes   maturity onset diabetes of the young, type 6]]
neurologic examination the assessment of the functionality of the brain, spinal column, and nerves    
neurological screening a specific type of neurologic examination for early detection of disease(s) and/or disorder(s)    
neuromuscular maturity assessment a neuromuscular examination of a newborn's developmental characteristics    
neuronal migration abnormalities a diverse group of congenital brain developmental disorders characterized by defects in neuronal migration in the brain during early fetal development. The neuronal migration defects result in brain abnormalities that are usually manifested with mental retardation and epilepsy    
neuropathy a disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs    
neurosyphilis infection of the brain or spinal cord by treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia    
neurotrophic tyrosine kinase, receptor type 2 deficiency deficiency or dysfunction of the type 2 receptor for neurotropic tyrosine kinase associated with loss-of-function mutation(s) in the ntkr2 gene    
neutropenia a decrease in the number of neutrophils in the peripheral blood    
neutrophilia abnormally high level of neutrophils in the blood    
neutrophilic eccrine hidradenitis painful red or pink edematous nodules most commonly found on the palmar and/or plantar regions    
new daily persistent headache a bilateral, unremitting headache of mild to moderate intensity that occurs daily and may be associated with photophobia, phonophobia, or mild nausea