autosomaal dominante hereditaire aandoening	congenitale afwijking van bot van aangezicht	congenitale afwijking van schedel	faciale dysplasie	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk	skeletdysplasie
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syndroom van craniofaciale conodysplasie (aandoening)
	syndroom van craniofaciale conodysplasie
	craniofaciale conodysplasie
	Craniofacial conodysplasia syndrome
	This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.

Id	720754008
Status	Primitive

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

Associated morphology	morfologische afwijking
Finding site	structuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	structuur van bot van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

85168

SNOMED CT to ICD-10 extended map

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified