| 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... |
| CHIME | coloboma, heart anomaly, ichthyosis, mental retardation, ear abnormality |
| IBIDS | ichthyosis-brittle hair-impaired intelligence-decreased fertility-short stature [syndrome] |
| ichthyosis sebacea | The presence of an unusual amount of vernix caseosa. (05 Mar 2000) |
|---|---|
| ichthyosis sebacea cornea | A type of ichthyosis with vernix caseosa as seen in the newborn. (05 Mar 2000) |
| ichthyosis simplex | most common form of ichthyosis characterised by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait. (12 Dec 1998) |
| ichthyosis spinosa | A genodermatosis characterised by diffuse chronic erythema and scale formation which may be separated into bullous and nonbullous forms. Synonym: ichthyosiform erythroderma, ichthyosis spinosa, keratoma malignum. (05 Mar 2000) |
| ichthyosis uteri | Transformation of the columnar epithelium of the endometrium into stratified squamous epithelium. (05 Mar 2000) |
| ichthyosis vulgaris | most common form of ichthyosis characterised by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait. (12 Dec 1998) |
| ichthyosis, x-linked | Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the x-chromosome and transmitted to the male offspring. It is characterised by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency. (12 Dec 1998) |
| lamellar ichthyosis | A dry form of congenital ichthyosiform erythroderma, an autosomal recessive trait present at birth; characterised by large, coarse scales over most of the body with thickened palms and soles, and associated with ectropion; histologically, there is hyperkeratosis, a prominent granular layer in the epidermis, slight acanthosis, many mitotic figures, and normal or reduced epidermal cell turnover. See: collodion baby, harlequin foetus. (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) |