| NS | 1) Nephrotic Syndrome 1. Proteinuria &nb... |
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| AGT | abnormal glucose tolerance; activity group therapy; acute generalized tuberculosis; angiotensin; ant... |
| CIHS | central infantile hypotonic syndrome |
| CINCA | chronic infantile neurological cutaneous and auricular [syndrome] |
| EIEE | early infantile epileptic encephalopathy |
| ASGM1 | Asialo GM1 |
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| EIEE | Early infantile epileptic encephalopathy |
| IHPS | Infantile Hypertrophic Pyloric Stenosis |
| IM | Infantile Myofibromatosis |
| IRD | Infantile Refsum disease |
| infantile generalised GM1 gangliosidosis | One of the hereditary metabolic diseases of infancy; resembles Tay-Sachs disease, except other organ systems (bone, liver, kidney) are affected. Synonym: familial neuroviscerolipidosis, pseudo-Hurler disease, Type 1 GM1 gangliosidosis. (05 Mar 2000) |
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| GM1 gangliosidosis | Three forms exist: infantile, generalised; juvenile; and adult; gangliosidosis characterised by accumulation of a specific monosialoganglioside, GM1; due to deficiency of GM1-beta-galactosidase. Synonym: generalised gangliosidosis. (05 Mar 2000) |
| Type 1 GM1 gangliosidosis | One of the hereditary metabolic diseases of infancy; resembles Tay-Sachs disease, except other organ systems (bone, liver, kidney) are affected. Synonym: familial neuroviscerolipidosis, pseudo-Hurler disease, Type 1 GM1 gangliosidosis. (05 Mar 2000) |
| infantile GM2 gangliosidosis | <disease> A genetic disorder found in east European Jewish families which can result in early death bu affecting the brain and nerves by causing abnormal lipid metabolism. It is a lysosomal disease in which there is a deficiency of hexosaminidase A, an enzyme that degrades ganglioside GM2. Symptoms appear at age 3-6 months and include blindness, deafness, seizures, paralysis, dementia, decreased muscle tone and growth retardation. There is no known treatment and most children usually die between 2 and 5 years of age. Inheritance: autosomal recessive. (06 Oct 1997) |
| gangliosidosis | Any disease characterised, in part, by the abnormal accumulation within the nervous system of specific gangliosides, e.g., GM2 gangliosidosis, Tay-Sachs disease, caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside Synonym: gangliosialidosis, ganglioside lipidosis. (05 Mar 2000) |
| gangliosidosis g(m1) | Form of gangliosidosis characterised by accumulation of g(m1) ganglioside and oligosaccharides, and caused by an absence or severe deficiency of beta-galactosidase a. The three phenotypes of g(m1) gangliosidosis are called infantile (generalised), juvenile, and adult (types 1, 2, and 3 respectively), referring to the age at which clinical manifestations appear. (12 Dec 1998) |
| generalised gangliosidosis | Three forms exist: infantile, generalised; juvenile; and adult; gangliosidosis characterised by accumulation of a specific monosialoganglioside, GM1; due to deficiency of GM1-beta-galactosidase. Synonym: generalised gangliosidosis. (05 Mar 2000) |
| GM2 gangliosidosis | One of the hereditary metabolic disorders; several forms exist, including Tay-Sachs disease, Sandhoff's disease, AV variant and adult onset; characterised by accumulation of a specific metabolite, GM2 ganglioside due to deficiency of hexosaminidase A or B, or GM2 activator factor. (05 Mar 2000) |
| aggressive infantile fibromatosis | A childhood counterpart of abdominal or extra-abdominal desmoid tumours, characterised by firm subcutaneous nodules that grow rapidly in any part of the body that invade locally and recur but do not metastasize. (05 Mar 2000) |
| autism, infantile | A syndrome beginning in infancy and characterised by a lack of responsiveness to other people, gross impairment in verbal and nonverbal communication skills, and bizarre responses to the environment. (12 Dec 1998) |
| progressive infantile spinal muscular atrophy | Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised. Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy. (05 Mar 2000) |
| spasms, infantile | Primary generalised epileptic seizures occurring in infants between birth and twelve months of age consisting of brief synchronous contractions of the neck, torso, and both arms. These seizures often occur in infants with underlying neurologic diseases. The prognosis for these infants is grave, with approximately ninety percent developing mental retardation in addition to their seizures. The eeg has a typical hypsarrhythmia pattern. The spasms and hypsarrhythmia have a tendency to disappear over the first three to five years of life, only to be replaced by other forms of generalised seizures. Infantile spasms sometimes respond to valproic acid or acth. (12 Dec 1998) |
| supravalvar aortic stenosis-infantile hypercalcaemia syndrome | <syndrome> Supravalvar aortic stenosis associated with elfin facies, mental retardation, and hypercalcaemia; usually sporadic; perhaps an irregular dominant trait. (05 Mar 2000) |
| diffuse infantile familial sclerosis | <radiology> Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia Synonym: Krabbe leukodystrophy (12 Dec 1998) |
| infantile | Pertaining to an infant or to infancy. Origin: L. Infantilis (18 Nov 1997) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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