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syndroom van trifalangeale digitus I en brachyectrodactylie (aandoening)
syndroom van trifalangeale digitus I en brachyectrodactylie
Carnevale Hernandez del Castillo-syndroom
syndroom van trifalangeale duim en brachyectrodactylie
syndroom van Carnevale Hernandez del Castillo
Triphalangeal thumb with brachyectrodactyly syndrome
Carnevale Hernandez del Castillo syndrome
This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.
Id719951002
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele digitus van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8
CorrelationSNOMED CT source code to target map code correlation not specified