| CHARGE | coloboma, heart disease, atresia choanae, retarded growth and retarded development and/or CNS anomal... |
|---|---|
| CAH | 1) Chronic Active Hepatitis 2) Congenital Adrenal Hyperplasia |
| CEP | Congenital Erythropoetic Porphyria(= Gnther Disease; 선천성 조혈기성 Porphyria |
| CHD | 1) Congenital Heart Disease 2) Common Hepatic Duct |
| ACED | anhydrotic congenital ectodermal dysplasia |
D factor
| 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) |
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| 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 cataract | A cataract or clouding or the lens of the eye, that occurs in the foetus at some time during pregnancy. Children with Down's syndrome and galactosaemia have an increased incidence of congenital cataracts. Treatment includes cataract removal and the insertion of an artificial lens. (27 Sep 1997) |
| 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) |
| congenital dysphagocytosis | <disease> Chronic granulomatous disease is usually fatal in childhood, in which the production of hydrogen peroxide by phagocytes does not occur because of a lesion in an NADP dependent oxidase. Catalase negative bacteria are not killed and there is no luminol enhanced chemiluminescence when the cells are tested. The absence of the oxygen dependent killing mechanism is not itself fatal but seriously compromises the primary defense system. at least three separate lesions can cause the syndrome, the commonest being a defect in plasma membrane cytochrome. Acronym: CGD (12 Jan 1998) |
| congenital dysplasia of the hip | A malformation of the hip joint that is present at birth. Genetic factors likely play a role in this disorder. Features include hip dislocation, asymmetry of leg positions, asymmetric fat folds and diminished movement on the affected side. Some children will exhibit little or no features and must be diagnosed by physical examination of the hip joints. (27 Sep 1997) |