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mesomele dwerggroei Reinhardt-Pfeiffer-type (aandoening)
mesomele dwerggroei Reinhardt-Pfeiffer-type
syndroom van Reinhardt-Pfeiffer
mesomele dysplasie type Reinhardt-Pfeiffer
Reinhardt Pfeiffer mesomelic dysplasia
Mesomelic dwarfism Reinhardt-Pfeiffer type
Reinhardt Pfeiffer syndrome
Mesomelic dysplasia of hypoplastic ulna and fibula type
Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner.
Id715472000
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
Associated morphologyhypoplasie
Finding sitebotstructuur van fibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitebotstructuur van ulna
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ78.8
TermOverige gespecificeerde osteochondrodysplasie├źn
SNOMED CT to Orphanet simple map2634
SNOMED CT to ICD-10 extended map
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8
CorrelationSNOMED CT source code to target map code correlation not specified