| 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) |
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| congenital aplasia of thymus | diGeorge syndrome |
| congenital aplastic anaemia | <haematology> A rare inherited type of aplastic anaemia which carries an increased risk to the patient of developing leukaemia. May be treated by bone marrow transplant. Origin: Gr. Haima = blood (13 Nov 1997) |
| 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) |
| congenital bronchiectasis | Persistent and progressive dilation of bronchi or bronchioles as a consequence of inflammatory disease (lung infections), obstruction (tumour) or congenital abnormality (for example cystic fibrosis). Although rarely congenital, it is most often an acquired condition in childhood. (27 Sep 1997) |
| congenital cardiomyopathy | <radiology> Endocardial fibroelastosis, myocarditis, glycogen storage disease (Pompe's), anomalous origin of left coronary artery from pulmonary artery (12 Dec 1998) |
| congenital cerebellar atrophy | Familial disorder that causes degeneration of various cells in the cerebellum. Two types are recognised, one in which the granular layer cells degenerate, the other in which the Purkinje cells degenerate. (05 Mar 2000) |
| congenital cerebral aneurysm | Localised dilation of a cerebral vessel; usually a berry aneurysm. (05 Mar 2000) |
| congenital choreoathetosis | A type of cerebral palsy manifested predominantly as bilateral involuntary movements, beginning at about the age of 3 years, and preceded by generalised hypotonia and delayed motor development. Due to various causes, including kernicterus and birth hypoxia. Synonym: congenital choreoathetosis, double congenital athetosis, Vogt syndrome. (05 Mar 2000) |
| congenital clasped thumb with mental retardation | See: Clasped thumbs and mental retardation. (12 Dec 1998) |
| congenital conus | A congenital inferior crescent on the choroid at the edge of the optic disk; not associated with myopia. Synonym: congenital conus. (05 Mar 2000) |
| congenital defect | A birth defect. (12 Dec 1998) |
| congenital diaphragmatic hernia | Absence of the pleuroperitoneal membrane (usually on the left) or an enlarged Morgagni's foramen which allows protrusion of abdominal viscera into the chest. Synonym: Bochdalek's hernia. (05 Mar 2000) |
| congenital dyserythropoietic anaemia | A group of autosomal recessive anaemia's characterised by ineffective erythropoiesis, bone marrow erythroblastic multinuclearity, and secondary haemochromatosis. Three types are described: Type I, macrocytic, megaloblastic anaemia with erythroblastic internuclear chromatin bridges, type II,, normoblastic anaemia with multinucleated erythroblasts, type III, macrocytic anaemia with erythroblastic multinuclearity and gigantoblasts. (05 Mar 2000) |