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mesomele dwerggroei Reinhardt-Pfeiffer-type (aandoening)
mesomele dwerggroei Reinhardt-Pfeiffer-type
mesomele dysplasie type Reinhardt-Pfeiffer
syndroom van 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 sitestructuur van skeletstelsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8
CorrelationSNOMED CT source code to target map code correlation not specified