autosomaal recessieve hereditaire aandoening	camptodactylie	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen	mesomele dysplasie	palatoschisis
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syndroom van mesomele dysplasie, palatoschisis en camptodactylie (aandoening)
	syndroom van mesomele dysplasie, palatoschisis en camptodactylie
	mesomele dysplasie Reardon-type mesomele dwerggroei type Kozlowski-Reardon syndroom van Reardon-Hall-Slaney
	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.

Id	715471007
Status	Primitive

Associated morphology	fusiedefect door stoornis in ontwikkeling
Finding site	structuur van palatum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	gefixeerde flexiedeformiteit
Finding site	structuur van bewegingsapparaat van digitus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	botstructuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	onder referentiebereik
Interprets	Limb length

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q78.8
Term	Overige gespecificeerde osteochondrodysplasieën

SNOMED CT to Orphanet simple map

2631

SNOMED CT to ICD-10 extended map

Target	Q78.8
Rule	TRUE
Advice	ALWAYS Q78.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified