| HLHS | hypoplastic left heart syndrome |
|---|---|
| HLL | hypoplastic left lung |
| HLV | hamster leukemia virus; herpes-like virus; hypoplastic left ventricle |
| HLVS | hypoplastic left ventricle syndrome |
| CAV | congenital absence of vagina; congenital adrenal virilism; constant angular velocity; croup-associat... |
| 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) |
|---|---|
| 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 ankyloblepharon | Congenital adhesion of the upper and lower eyelid by bands of tissue. Synonym: filiform adnatum. Origin: ankylo-+ G. Blepharon, eyelid (05 Mar 2000) |
| congenital antithrombin III deficiency | Antithrombin III is a protein which stimulates the removal of blood clots in the bloodstream. Small blood clots form normally within the bloodstream, but are normally dissolved via the bodys antithrombin III. The deficiency of antithrombin III will result in an increased risk for blood clot formation causing organ damage. This is an inherited as a autosomal dominant trait. Inheritance: autosomal dominant. (27 Sep 1997) |
| congenital aplasia of thymus | diGeorge syndrome |
| congenital atonic pseudoparalysis | Atonic pseudoparalysis of congenital origin (neither familial nor hereditary), observed especially in infants and characterised by absences of muscular tone only in muscles innervated by the spinal nerves. Synonym: congenital atonic pseudoparalysis, myatonia congenita, Oppenheim's disease, Oppenheim's syndrome. An indefinite term for a number of congenital neuromuscular disorders that cause generalised myotonia in young children, and that have a benign course (static or regressive). (05 Mar 2000) |
| congenital baldness | Absence of all hair at birth, associated with psychomotor epilepsy; autosomal dominant inheritance. Synonym: congenital baldness, hypotrichiasis. (05 Mar 2000) |