| CDH | 1) Chronic Daily Headache = CTH = ... |
|---|---|
| CDH | ceramide dihexoside; congenital diaphragmatic hernia; congenital dislocation of hip; congenital dysp... |
| CP | candle power; capillary pressure; cardiac pacing; cardiac performance; cardiopulmonary; caudate puta... |
| 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... |
| hepatic porphyria | A category of porphyria that includes porphyria cutanea tarda, variegate porphyria, and coproporphyria. Synonym: porphyria hepatica. (05 Mar 2000) |
|---|---|
| hepatoerythropoietic porphyria | An autosomal recessive disorder in which there is a deficiency or absence of uroporphyrinogen decarboxylase; results in photosensitivity and excessive hepatic production of 8-and 7-carboxylate porphyrins. (05 Mar 2000) |
| South African type porphyria | Porphyria characterised by abdominal pain and neuropsychiatric abnormalities, by dermal sensitivity to light and mechanical trauma, by increased faecal excretion of proto-and coproporphyrin, and by increased urinary excretion of d-aminolevulinic acid, porphobilinogen, and porphyrins; due to a deficiency of protoporphyrinogen oxidase; autosomal dominant inheritance. Synonym: protocoproporphyria hereditaria, South African type porphyria. (05 Mar 2000) |
| squirrel porphyria | Porphyria as an apparently normal metabolic state seen in the Florida fox squirrel (Sciurus niger). (05 Mar 2000) |
| d-aminolevulinate dehydratase porphyria | An inherited disorder in which there is a deficiency of porphobilinogen synthase; d-aminolevulinate levels are elevated, leading to neurological disturbances. Synonym: porphobilinogen synthase porphyria. (05 Mar 2000) |
| swine porphyria | Porphyria as a dominant trait seen in swine. (05 Mar 2000) |
| symptomatic porphyria | A form of hepatic porphyria (porphyria, hepatic) characterised by photosensitivity resulting in bullae that rupture easily to form shallow ulcers. This condition occurs in two forms: a sporadic, nonfamilial form that begins in middle age and has normal amounts of uroporphyrinogen decarboxylase with diminished activity in the liver; and a familial form in which there is an autosomal dominant inherited deficiency of uroporphyrinogen decarboxylase in the liver and red blood cells. (12 Dec 1998) |
| intermittent acute porphyria | <gastroenterology, haematology> A group of rare inherited metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. It is caused by hepatic overproduction of d-aminolevulinic acid, which has greatly increased urinary excretion and of porphobilinogen, and some increase of uroporphyrin, due to a deficiency of porphobilinogen deaminase. Clinical features: intermittent acute attacks of hypertension, abdominal colic, psychosis, and polyneuropathy, but with no photosensitivity. It is exacerbated by the ingestion of certain drugs such as; barbiturates). Inheritance: autosomal dominant. (20 Sep 2002) |
| ovulocyclic porphyria | Acute episodic exacerbations of porphyria occurring in the premenstrual period. (05 Mar 2000) |
| erythropoietic porphyria | A classification of porphyria that includes congenital erythropoietic porphyria and erythropoietic protoporphyria. (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) |