| PNET | Primitive Neuro-Ectodermal(-Epithelial) Tumor |
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| AEC | ankyloblepharon, ectodermal defects, and cleft lip [syndrome]; at earliest convenience; Atomic Energ... |
| AER | abduction/external rotation; acoustic evoked response; acute exertional rhabdomyolysis; agranular en... |
| APECED | autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy |
| CAH | 1) Chronic Active Hepatitis 2) Congenital Adrenal Hyperplasia |
| familial white folded dysplasia | An autosomal dominant condition of the oral cavity characterised by soft, white or opalescent, thickened and corrugated folds of mucous membrane; other mucosal sites are occasionally involved simultaneously. Synonym: familial white folded dysplasia, oral epithelial nevus. (05 Mar 2000) |
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| fibromuscular dysplasia | <radiology> Beaded segment of artery, medial type most common, F more than M, renal arteries, most common vessels, R more than L, mid and distal 1/3 (Differential diagnosis: atherosclerosis - ostium/proximal) (12 Dec 1998) |
| fibrous dysplasia | A condition of cystic bone growth that results from abnormal bone development. May occur with bone lesions, skin pigmentation and endocrine abnormalities. See: McCune-Albright syndrome. Origin: Gr. Plassein = to form (27 Sep 1997) |
| fibrous dysplasia, monostotic | Fibrous dysplasia of bone involving only one bone. (12 Dec 1998) |
| fibrous dysplasia of bone | A disease of bone marked by thinning of the cortex and replacement of bone marrow by gritty fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (fibrous dysplasia, monostotic) or several (fibrous dysplasia, polyostotic). (12 Dec 1998) |
| fibrous dysplasia of jaws | <radiology> Hereditary form of polyostotic fibrous dysplasia, involves mandible (12 Dec 1998) |
| fibrous dysplasia, polyostotic | Fibrous dysplasia of bone affecting several or many bones. When associated with melanotic pigmentation of the skin and endocrine disorders, it is known as albright's syndrome. (12 Dec 1998) |
| florid osseous dysplasia | Benign fibro-osseous jaw lesions of unknown aetiology, occurring predominantly in middle-aged black females, which present as large painless radiopaque masses usually involving several quadrants of the jaw. Synonym: florid osseous dysplasia, cemental dysplasia. (05 Mar 2000) |
| lymphopenic thymic dysplasia | An obsolete term for thymic alymphoplasia. (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) |