| CDH | ceramide dihexoside; congenital diaphragmatic hernia; congenital dislocation of hip; congenital dysp... |
|---|---|
| CAV | congenital absence of vagina; congenital adrenal virilism; constant angular velocity; croup-associat... |
| CC | calcaneal-cuboid; calcium cyclamate; cardiac catheterization; cardiac contusion; cardiac cycle; card... |
| CHA | Canadian Hospital Association; Catholic Health Association; Chinese hamster; chronic hemolytic anemi... |
| CHD | Chediak-Higashi disease; childhood disease; chronic hemodialysis; congenital or congestive heart dis... |
| pulmonary atresia | Congenital absence of the normal valvular orifice into the pulmonary artery. This condition is characterised by cardiomegaly, reduced pulmonary vascularity, and right ventricular atrophy. (12 Dec 1998) |
|---|---|
| duodenal atresia | <radiology> Double bubble sign, polyhydramnios, associated with, Down syndrome, VATER syndrome NB: annular pancreas also may cause duodenal obstruction, and is associated with VATER syndrome (12 Dec 1998) |
| intestinal atresia | Congenital obliteration of the lumen of the intestine, with the ileum involved in 50% of the cases and the jejunum and duodenum following in frequency. It is the most frequent cause of intestinal obstruction in the newborn infant. Its aetiology may be related to failure of recanalization during early development or to some impairment of blood supply during intrauterine life. (12 Dec 1998) |
| oesophageal atresia | A congenital anomaly where the upper oesophagus ends (atresia) and does not connect with the stomach and the lower oesophagus connects to the trachea (tracheoesophageal fistula). A common complication seen shortly after birth is an aspiration pneumonia. Infants will demonstrate excessive salivation, gagging and coughing with feeding, poor feeding and a bluish discolouration to the skin (cyanosis). Treatment involves the surgical repair of the oesophagus before the child can take anything by mouth. (27 Sep 1997) |
| tricuspid atresia | Absence of the orifice between the right atrium and ventricle, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (hypertrophy, left ventricular) because the right ventricle is absent or not functional. (12 Dec 1998) |
| follicular atresia | <physiology> The degeneration and resorption of an ovarian follicle before it reaches maturity and ruptures. (12 Dec 1998) |
| laryngeal atresia | Congenital failure of the laryngeal opening to develop, resulting in partial or total obstruction at or just above or below the glottis. (05 Mar 2000) |
| 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) |