| phakoma | A hamartoma found in phacomatosis; often refers to a retinal hamartoma in tuberous sclerosis. Synonym: phakoma. Origin: phaco-+ G. -oma, tumour (05 Mar 2000) |
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| phakomatoses | <radiology> Neurofibromatosis (von Recklinghausen), tuberous sclerosis (Bourneville), encephalo-trigeminal angiomatosis (Sturge-Weber-Dimitri), retino-cerebellar haemangioblastoma (von Hippel-Lindau), neurocutaneous melanosis, ataxia-telangiectasia all autosomal dominant except ataxia-telangiectasia wide range of penetrance and expressivity high rate of sporadic cases (spont. Mutation) (12 Dec 1998) |
| phakomatosis | A generic term for a group of hereditary diseases characterised by hamartomas involving multiple tissues; e.g., von Hippel-Lindau's disease, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis. Synonym: phakomatosis. Origin: Van der Hoeve's coinage fr. G. Phakos, mother-spot (05 Mar 2000) |
| phakoma |
any of the hamartomas found characteristically in the phakomatoses; one example is the herald lesion of tuberous sclerosis (see tuber, def. 2). Written also phacoma.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| phakomatosis |
pl. phakomato´ses [phakoma + -osis] any of a group of congenital and hereditary developmental anomalies having in common selective involvement of the tissues of ectodermal origin (i.e., central nervous system, eye, and skin) and the development of disseminated glial hamartomas (phakomas) in these tissues. The major syndromes in the group are neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, von Hippel-Lindau disease, and ataxia-telangiectasia. Called also neurocutaneous syndrome. Written also phacomatosis.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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보험코드 | 성분/함량 | 구분/보험급여 |
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보험코드 | 성분/함량 | 구분/보험급여 |
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