| A-T | ataxia telangiectasia |
|---|---|
| CREST Syndrome | 1. Calcinosis cutis 2. Raynaud's phenomenon 3. Esophageal ... |
| CRST Syndrome | 1. Calcinosis 2. Raynaud's Phenomenon 3. Sclerodactyly ... |
| CREST | calcinosis, Raynaud phenomenon, esophageal involvement, sclerodactyly, and telangiectasia [syndrome]... |
| CRST | calcinosis, Raynaud phenomenon, sclerodactyly, telangiectasia [syndrome]; corrected sinus recovery t... |
| ATM | Ataxia Telangiectasia Mutated |
|---|---|
| HHT | Hereditary Haemorrhagic Telangiectasia |
| HHT1 | Hereditary Haemorrhagic Telangiectasia Type 1 |
| AT | Ataxia Telangiectasis |
| ADCA | Autosomal Dominant Cerebellar Ataxia |
telangiectasis
| ataxia telangiectasia syndrome | ataxia telangiectasia |
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| ataxia-telangiectasia | <neurology, oncology> An intriguing autosomal recessive disorder in which a single defective gene produces myriad and protean effects, presents with cerebellar ataxia, telangiectasias in the eyes and skin, immune deficiency and autoimmune phenomena, propensity for lymphoid and other malignancies, excessive sensitivity to ionising radiation, increased serum alpha-fetoprotein concentrations and a tendency for chromosome breakage and translocation. A syndrome characterised by choreoathetosis beginning in childhood, progressive cerebellar ataxia, telangiectasis of conjunctiva and skin, slowly progressive mental deterioration and increasing cerebellar degeneration. There is evidence that heterozygotes show an increased susceptibility to malignancy as well, with breast cancer often cited. The gene was localised by linkage studies to chromosome 11q22-23, and recently cloned, revealing it to be homologous to the PI-3 kinase family so that prenatal diagnosis by RFLP analysis is possible. Other related genes are suspected to exist. Diagnosis in affected patients is made on clinical grounds, by detection of high concentrations of alpha-fetoprotein, and by a specialised cell culture assay for radiosensitivity and atypical radioresistant DNA synthesis. These cell culture methods are also used for prenatal diagnosis. A characteristic autopsy feature of ataxia-telangiectasia is the presence of empty basket cells in the cerebellum which results from degeneration of the previously contained Purkinje cells. Inheritance: autosomal recessive. (16 Dec 1998) |
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| cephalo-oculocutaneous telangiectasia | An angioma involving the skin of the face, orbit, meninges, and brain. See: Sturge-Weber syndrome. (05 Mar 2000) |
| primary telangiectasia | angioma serpiginosum |
| hereditary haemorrhagic telangiectasia | <gastroenterology> An inherited disease characterised by thin blood vessel walls in the nose, skin and gastrointestinal tract. This condition ins associated with a high risk of bleeding complications. Inheritance: autosomal dominant. (27 Sep 1997) |
| secondary telangiectasia | Telangiectasia related to a known cause of prolonged dermal vascular dilatation such as sunlight, varicose veins, and connective tissue diseases; often associated with atrophy of the skin. (05 Mar 2000) |
| spider telangiectasia | spider angioma |
| telangiectasia | <clinical sign> A permanent dilation of preexisting blood vessels (capillaries, arterioles, venules), creating small focal red lesions, usually in the skin or mucous membranes. Also called telangiectasis. (16 Dec 1997) |
| 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) |
| telangiectasia lymphatica | Dilatation of the lymphatic vessels. (12 Dec 1998) |
| telangiectasia macularis eruptiva perstans | A disseminated eruption of telangiectases associated with erythematous and edematous macules. (05 Mar 2000) |
| telangiectasia verrucosa | A discrete, pink to red telangiectasia having a tendency to undergo secondary epithelial changes, including acanthosis and hyperkeratosis. An underlying vascular abnormality is present in many cases. The term angiokeratoma is applied to a number of quite distinct conditions which share a common clinical presentation with asymptomatic hyperkeratotic vascular skin lesions and a histological combination of superficial dermal vascular ectasia. (12 Dec 1998) |
| essential telangiectasia | Localised capillary dilation of undetermined origin. Synonym: angioma serpiginosum. (05 Mar 2000) |
| acute ataxia | Generalised ataxia of abrupt onset, most often caused by drug intoxications, poisonings, or vestibular neuronitis. (05 Mar 2000) |
| ataxia | <neurology> Failure of muscular coordination, irregularity of muscular action. Origin: Gr. Taxis = order (16 Dec 1997) |
| ataxia cordis | <cardiology> A condition where there is disorganised electrical conduction in the atria, resulting in ineffective pumping of blood into the ventricle. Acronym: AF (02 Jan 1998) |
Synonyms : Ataxia Telangiectasia Syndrome, Ataxia-Telangiectasia, Louis Bar Syndrome, Syndrome, Ataxia Telangiectasia, Syndrome, Louis-Bar
| ataxia telangiectasia |
Ataxia-telangiectasia (AT) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, progressive cerebellar dysfunction, and recurrent sinopulmonary infections secondary to progressive immunological and neurological dysfunction (Boder, 1958). AT patients are significantly predisposed to cancer, particularly lymphomas and leukemias. ...
출처: en.wikipedia.org/wiki/Ataxia_telangiectasia
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| ataxia telangiectasia |
Hereditary disorder characterized by problems with muscle coordination, immunodeficiency, inadequate DNA repair, and an increased risk of developing cancer.
출처: science.education.nih.gov/supplements/nih1/cancer/...
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| ataxia telangiectasia |
A rare genetic disorder in which cells in the body don't have the ability to repair damage to DNA caused by ionizing radiation (like X-rays).
출처: envirocancer.cornell.edu/Glossary/GL.index.cfm
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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