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syndroom van ziekte van Hirschsprung en brachydactylie type D (aandoening)
syndroom van ziekte van Hirschsprung en brachydactylie type D
Hirschsprung disease with type D brachydactyly syndrome
This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out.
Id721222007
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van colon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydilatatie
Finding sitestructuur van colon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ43.1
RuleTRUE
AdviceALWAYS Q43.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ71.8
RuleTRUE
AdviceALWAYS Q71.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ72.8
RuleTRUE
AdviceALWAYS Q72.8
CorrelationSNOMED CT source code to target map code correlation not specified