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syndroom van paraganglioom en gastro-intestinaal stromaal sarcoom (aandoening)
syndroom van paraganglioom en gastro-intestinaal stromaal sarcoom
dyade van GIST en paragangliomen
syndroom van Carney-Stratakis
Carney Stratakis syndrome
Carney Stratakis dyad
Paraganglioma and gastric stromal sarcoma syndrome
A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance.
Id722377004
StatusPrimitive
Associated morphologyparaganglioom
Finding sitestructuur van sympathisch zenuwstelsel
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD44.8
RuleTRUE
AdviceALWAYS D44.8 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified