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syndroom van mesomele dysplasie, palatoschisis en camptodactylie (aandoening)
syndroom van mesomele dysplasie, palatoschisis en camptodactylie
mesomele dwerggroei type Kozlowski-Reardon
syndroom van Reardon-Hall-Slaney
mesomele dysplasie Reardon-type
Reardon Hall Slaney syndrome
Mesomelic dysplasia with cleft palate and camptodactyly syndrome
This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive.
Id715471007
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van skeletstelsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Associated morphologyfusiedefect
Finding sitebotstructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8
CorrelationSNOMED CT source code to target map code correlation not specified