| GCL | globoid cell leukodystrophy |
|---|---|
| GLD | globoid leukodystrophy; glutamate dehydrogenase |
| MLD | manual lymph drainage; median lethal dose; metachromatic leukodystrophy; minimal lesion disease; min... |
| OLD | obstructive lung disease; orthochromatic leukodystrophy |
| PML | peripheral motor latency; polymorphonuclear leukocyte; posterior mitral leaflet; progressive multifo... |
| GLD | Globoid cell leukodystrophy |
|---|---|
| MLD | Metachromatic Leukodystrophy |
| AHO | Albright hereditary osteodystrophy |
| CHED | Congenital Hereditary Endothelial Dystrophy |
| HANE | Hereditary Angio Neurotic Edema |
| adrenal leukodystrophy | Sudanophilic leukodystrophy with bronzing of skin and adrenal atrophy. A metabolic disorder of young males, characterised by widespread myelin degeneration and associated adrenal insufficiency. The myelin degeneration is massive in various portions of the brain and sometimes the spinal cord, with the accumulation of degradation products of myelin in macrophages: sudanophilic demyelination; atrophy is present in the adrenal glands and testes, and markedly increased amounts of very long-chain fatty acid are present in both the brain and adrenal glands. Symptoms include bronzing of the skin, dysarthria, cortical blindness, bilateral hemiplegia, pseudobulbar paralysis, and progressive dementia. Probably sex-linked recessive inheritance. (05 Mar 2000) |
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| globoid cell leukodystrophy | <radiology> Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia Synonym: Krabbe leukodystrophy (12 Dec 1998) |
| metachromatic leukodystrophy | <radiology> Dysmyelinating disease, autosomal recessive, aryl sulfatase A -- absent from urine and serum, most present by 2 yrs, die at 3-4 yrs, may arise at any age, CT: decreased density of white matter, primarily in centrum semiovale, with or without focal gall bladder defects (!) (12 Dec 1998) |
| leukodystrophy | <radiology> Type of dysmyelinating disease, hereditary, peripheral nervous system unaffected in some disorders Specific diseases: adrenoleukodystrophy, metachromatic leukodystrophy, spongy degeneration (Canavan), globoid cell (Krabbe) leukodystrophy, Alexander disease, Pelizaeus-Merzbacher disease, Cockayne syndrome (12 Dec 1998) |
| leukodystrophy, globoid cell | An inherited metabolic disorder of the nervous system, particularly the white matter. It is characterised histologically by a paucity of myelin and oligodendroglia, severe astrocytic gliosis, and massive infiltration with unique multinucleated globoid cells which are enriched in galactosylceramide. The primary genetic defect is a deficiency of galactosylceramidase. (12 Dec 1998) |
| leukodystrophy, metachromatic | A sphingolipidosis where there is defective desulfation of galactosyl-3-sulfate ceramide due to a defective enzyme cerebroside sulfatase (arylsulfatase a). The result is an accumulation of sulfatide in neural and non-neural tissues which manifests as mental deterioration and severe disturbances of the central nervous system. (12 Dec 1998) |
| leukodystrophy with diffuse Rosenthal fibre formation | A metabolic disorder whose onset can be in infancy, adolescence, or adulthood; characterised pathologically by widespread cerebral demyelination with astrocyte and primitive oligodendroglial cell proliferation; refractile Rosenthal fibres result from the degeneration of these proliferating cells; aetiology unknown, but possibly due to a metabolic defect of astrocytes; sex-linked recessive disorder. (05 Mar 2000) |
| Albright's hereditary osteodystrophy | An inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects, notably the small fourth metacarpals, but intelligence is normal. There are dominant, recessive and X-linked forms. See: pseudohypoparathyroidism. Synonym: Albright's syndrome. (05 Mar 2000) |
| angioedema, hereditary | 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 angioneurotic oedema. (12 Dec 1998) |
| angioneurotic oedema, hereditary | 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) |
| canine hereditary blindness | An autosomal dominant condition seen in dogs of the collie and several other breeds. (05 Mar 2000) |
| colourectal neoplasms, hereditary nonpolyposis | A syndrome characterised by autosomal dominant inheritance, a low mean age (41 years) for occurrence of colon cancer, and a marked increase in the proportion of tumours in the proximal colon. (12 Dec 1998) |
| corneal dystrophies, hereditary | Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. (12 Dec 1998) |
| hereditary | <genetics> Transferred via genes from parent to child. (16 Dec 1997) |
| hereditary amyloidosis | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|