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autosomaal dominante 'omodysplasia' (aandoening)
autosomaal dominante 'omodysplasia'
Autosomal dominant omodysplasia
Omodysplasia 2
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
Id725165009
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van bovenste extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsArm length
SNOMED CT to Orphanet simple map93328
SNOMED CT to ICD-10 extended map
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8
CorrelationSNOMED CT source code to target map code correlation not specified