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brachydactylie type A6 (aandoening)
brachydactylie type A6
syndroom van Osebold-Remondini
Brachydactyly type A6
Osebold Remondini syndrome
Manifestations of brachymesophalangy with mesomelic short limbs and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. Transmission appears to be autosomal dominant.
Id715722003
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele middenfalanx
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ73.8
TermOverige onderontwikkeling van niet gespecificeerde extremiteit(en)
SNOMED CT to Orphanet simple map93382
SNOMED CT to ICD-10 extended map
TargetQ73.8
RuleTRUE
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified