congenitale afwijking van schedel	faciale dysplasie	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	skeletdysplasie	X-gebonden hereditaire dominante aandoening
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craniofrontonasale dysplasie (aandoening)
	craniofrontonasale dysplasie
	CFNS craniofrontonasaal syndroom CFND
	Craniofrontonasal dysplasia
	Craniofrontonasal syndrome
	A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.

Id	715421009
Status	Primitive

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

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

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q75.8
Term	Overige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen

SNOMED CT to Orphanet simple map

1520

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified