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syndroom van extrasystolen, kleine gestalte, hyperpigmentatie en microcefalie (aandoening)
syndroom van extrasystolen, kleine gestalte, hyperpigmentatie en microcefalie
syndroom van Char-Douglas-Dungan
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
Char Douglas Dungan syndrome
A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Id771179007
StatusPrimitive
Associated morphologyhyperpigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified