| FHH | Familial Hypocalciuric Hypercalcemia = Familial Benign Hypercalcemia |
|---|---|
| FAD | familial Alzheimer dementia; familial autonomic dysfunction; fetal activity-acceleration determinati... |
| FAP | familial adenomatous polyposis; familial amyloid polyneuropathy; fatty acid polyunsaturated; fatty a... |
| CREST Syndrome | 1. Calcinosis cutis 2. Raynaud's phenomenon 3. Esophageal ... |
| CRST Syndrome | 1. Calcinosis 2. Raynaud's Phenomenon 3. Sclerodactyly ... |
| ATM | Ataxia Telangiectasia Mutated |
|---|---|
| HHT | Hereditary Haemorrhagic Telangiectasia |
| HHT1 | Hereditary Haemorrhagic Telangiectasia Type 1 |
| BFNC | Benign Familial Neonatal Convulsions |
| FAD | Familial Alzheimer's disease |
telangiectasis
| 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 |
| 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) |
| benign familial chorea | A rare, nonprogressive movement disorder characterised by chorea and athetosis appearing in early childhood, most commonly manifested as gait ataxia and upper limb coordination. Intellect is unaffected. Probably autosomal-dominance inheritance with incomplete penetrance. (05 Mar 2000) |
| benign familial chronic pemphigus | Recurrent eruption of vesicles and bullae that become scaling and crusted lesions with vesicular borders, predominantly of the neck, groin, and axillary regions; autosomal dominant inheritance, presenting in late adolescence or early adult life. Synonym: Hailey-Hailey disease. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|