| AHO | Albright hereditary osteodystrophy |
|---|---|
| ASLN | Alport syndrome-like hereditary nephritis |
| HACR | hereditary adenomatosis of the colon and rectum |
| HAE | health appraisal examination; hearing aid evaluation; hepatic artery embolism; hereditary angioneuro... |
| HANE | hereditary angioneurotic edema |
| adrenal hyperplasia, congenital | A group of inherited disorders of adrenal steroidogenesis, the physical expression of which varies with the sex of the patient, the severity of the congenital enzyme defect, and the age at which the defect makes its presence felt. The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. There is also a salt-losing form (a more complete 21-hydroxylase deficiency), a hypertensive form (11-hydroxylase deficiency), a 17-hydroxylase deficiency form, a desmolase deficiency form, and a 3-beta-hydroxysteroid deficiency form. (12 Dec 1998) |
|---|---|
| anaemia, dyserythropoietic, congenital | A familial disorder characterised by anaemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors. Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) |
| anaemia, haemolytic, congenital | Haemolytic anaemia due to various intrinsic defects of the erythrocyte. (12 Dec 1998) |
| anaemia, haemolytic, congenital nonspherocytic | Any one of a group of congenital haemolytic anaemias in which there is no abnormal haemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated. (12 Dec 1998) |
| bovine congenital ataxia | An autosomal recessive ataxia seen in several European breeds of cattle. (05 Mar 2000) |
| bullous congenital ichthyosiform erythroderma | Diffusely red, eroded skin at birth, with subsequent scaling, tending to improve in later life, characterised by generalised epidermolytic hyperkeratosis and autosomal dominant inheritance. See: epidermolytic hyperkeratosis. Synonym: generalised epidermolytic hyperkeratosis, ichthyismus hystrix, ichthyosis hystrix. (05 Mar 2000) |
| pain insensitivity, congenital | Absence of sensibility to pain or inability to feel pain. The condition is present at birth. (12 Dec 1998) |
| rubella syndrome, congenital | Transplacental infection of the foetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalised growth retardation. (12 Dec 1998) |
| congenital | <embryology> Existing at and usually before, birth, referring to conditions that are present at birth, regardless of their causation. Origin: L. Congenitus = born together (18 Nov 1997) |
| congenital absence of pulmonary valve | <radiology> BIG central pulmonary arteries, big RV (12 Dec 1998) |
| congenital adrenal hyperplasia | <endocrinology> A genetic disorder present at birth characterised by a deficiency of the hormones aldosterone and cortisol and an overproduction of male sex hormones (androgens). In males this may manifest as enlarged penis, small testes and early development of masculine characteristics. In females features include ambiguous genitalia, failure to menstruate, deep voice and excessive hair. Origin: Gr. Plassein = to form (27 Sep 1997) |
| congenital afibrinogenaemia | <biochemistry> A below normal level of fibrinogen in the plasma. Fibrinogen (factor II) is one of the proteins involved in the formation of a blood clot. This condition may be congenital or acquired (for example disseminated intravascular coagulation, multiple blood transfusions). Origin: Gr. Haima = blood (27 Sep 1997) |
| congenital amputation | Amputation produced in utero; attributed to the pressure of constricting bands (amniotic); autosomal recessive inheritance. Synonym: amniotic amputation, amputation, birth amputation, intrauterine amputation, spontaneous amputation. (05 Mar 2000) |
| congenital anaemia | <haematology> A condition which develops in the foetus due to an incompatibility between the mother's blood type (RH factor) and the baby's. Maternal antibodies, which enter the foetal circulation during delivery attack the baby's red blood cells leading to haemolysis (rupture of the cells). Symptoms include an infant with an enlarged liver and spleen, swelling, jaundice and anaemia. (27 Sep 1997) |
| congenital ankyloblepharon | Congenital adhesion of the upper and lower eyelid by bands of tissue. Synonym: filiform adnatum. Origin: ankylo-+ G. Blepharon, eyelid (05 Mar 2000) |