| DR | degeneration reaction; delivery room; deoxyribose; diabetic retinopathy; diagnostic radiology; digit... |
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| Ea | R reaction of degeneration [Ger. Entartungs-Reaktion] |
| HLD | hepatolenticular degeneration; herniated lumbar disk; Hippel-Lindau disease; hypersensitivity lung d... |
| INCD | infantile nuclear cerebral degeneration |
| MDT | mast [cell] degeneration test; mean dissolution time; median detection threshold; multidisciplinary ... |
| neuropathies, hereditary motor and sensory | A group of slowly progressive inherited disorders in which the predominant involvement is the peripheral motor neurons with lesser involvement of the peripheral sensory neurons. Neuronal degeneration and atrophy are characteristic of these disorders. Some of the associated characteristics are phytanic acid excess, optic atrophy, and retinitis pigmentosa. (12 Dec 1998) |
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| neuropathies, hereditary sensory and autonomic | A group of inherited disorders in which there is selective involvement of the peripheral sensory and autonomic neurons and degeneration of fibres by axonal atrophy and degeneration. Five types of disorders have been described and classified type I through type v. (12 Dec 1998) |
| oedema, hereditary angioneurotic | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
| telangiectasia, hereditary haemorrhagic | An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (12 Dec 1998) |
| elliptocytosis, hereditary | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. (12 Dec 1998) |
| exostoses, multiple hereditary | Hereditary disorder transmitted by an autosomal dominant gene and characterised by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. (12 Dec 1998) |
| eye diseases, hereditary | Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. (12 Dec 1998) |
| Leber's hereditary optic atrophy | Hereditary degeneration of the optic nerve and papillomacular bundle with resulting rapid loss of central vision, progressive for several weeks, then usually stationary with permanent central scotoma; age of onset is variable, most often in the third decade; more males than females are affected and transmission is cytoplasmic and strictly on the female side. Mutation on the mitochondrial chromosome involved, which presumably interacts with an X-linked mutant. This mechanism may explain the bizarre sex ratio, which differs significantly from one country to another. (05 Mar 2000) |
| adipose degeneration | Abnormal formation of microscopically visible droplets of fat in the cytoplasm of cells, as a result of injury. Synonym: adipose degeneration, steatosis. (05 Mar 2000) |
| adiposogenital degeneration | A disorder characterised primarily by obesity and hypogonadotrophic hypogonadism in adolescent boys; dwarfism is rare, and when present is thought to reflect hypothyroidism. Visual loss, behavioural abnormalities, and diabetes insipidus may occur. Frohlich's syndrome often is used synonymously for this disorder, although the original case involved a pituitary tumour; most cases are thought to result from hypothalamic dysfunction in areas regulating appetite and gonadal development. The most common causes are pituitary and hypothalamic neoplasms. Synonym: adiposis orchica, adiposogenital degeneration, adiposogenital dystrophy, adiposogenital syndrome, hypophysial syndrome, hypothalamic obesity with hypogonadism. Origin: L. Fr. G. Dys-, bad, + trophe, nourishment (05 Mar 2000) |
| albuminous degeneration | An obsolete terms for cloudy swelling. (05 Mar 2000) |
| amyloid degeneration | Infiltration of amyloid between cells and fibres of tissues and organs. Synonym: waxy degeneration. (05 Mar 2000) |
| angiolithic degeneration | Calcareous degeneration of the walls of the blood vessels. (05 Mar 2000) |
| ascending degeneration | Retrograde degeneration of an injured nerve fibre; i.e., toward the nerve cell of the fibre, degeneration cephalad to a spinal cord lesion. (05 Mar 2000) |