| OCA | oculocutaneous albinism; olivopontocerebellar atrophy; oral contraceptive agent |
|---|---|
| CREST Syndrome | 1. Calcinosis cutis 2. Raynaud's phenomenon 3. Esophageal ... |
| CRST Syndrome | 1. Calcinosis 2. Raynaud's Phenomenon 3. Sclerodactyly ... |
| A-T | ataxia telangiectasia |
| CREST | calcinosis, Raynaud phenomenon, esophageal involvement, sclerodactyly, and telangiectasia [syndrome]... |
| OCA | Oculocutaneous albinism |
|---|---|
| ATM | Ataxia Telangiectasia Mutated |
| HHT | Hereditary Haemorrhagic Telangiectasia |
| HHT1 | Hereditary Haemorrhagic Telangiectasia Type 1 |
telangiectasis
| cephalo-oculocutaneous telangiectasia | An angioma involving the skin of the face, orbit, meninges, and brain. See: Sturge-Weber syndrome. (05 Mar 2000) |
|---|---|
| albinism, oculocutaneous | Heterogeneous group of autosomal recessive disorders comprising at least four recognised types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. (12 Dec 1998) |
| oculocutaneous | Relating to the eyes and the skin. (05 Mar 2000) |
| oculocutaneous albinism | An autosomal recessive deficiency of pigment in skin, hair, and eyes; in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, there is normal tyrosinase which cannot enter pigment cells; it is transmitted by an autosomal recessive inheritance. The compound heterozygote is normal so the two forms are not allelic. There are several types: type IA is characterised by absence of tyrosinase with life-long complete absence of melanin, marked photophobia, and nystagmus. Type IB, yellow albinism with low or absent tyrosinase; improves with age. Type II, with normal tyrosinase activity is the most common; hair darkens and nevi and freckles develop. Type III is characterised by absent tyrosinase but pigmentation of the iris in the first decade. Type IV in Africans with normal tyrosinase. Type V with red hair. Type VI, Hermansky-Padlak syndrome, with haemorrhage due to platelet deficiency and low to absent tyrosinase. Synonym: Hermansky-Pudlak syndrome type VI. (05 Mar 2000) |
| oculocutaneous syndrome | <syndrome> Bilateral uveitis with iritis and glaucoma, premature graying of the hair, and alopecia, vitiligo, and dysacusia; related to Harada's syndrome and sympathetic ophthalmia. Synonym: oculocutaneous syndrome, uveocutaneous syndrome. Origin: Cecile and Oscar Vogt (05 Mar 2000) |
| 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) |
| ataxia telangiectasia syndrome | ataxia telangiectasia |
| 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) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|