autosomaal dominante hereditaire aandoening	congenitaal gehoorverlies	gehoorverlies bij syndroom	hereditaire aandoening van auditief systeem	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
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doofheid-craniofaciaal syndroom (aandoening)
	doofheid-craniofaciaal syndroom
	Deafness craniofacial syndrome
	This syndrome has characteristics of the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.

Id	716245003
Status	Primitive

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

Has interpretation	gestoord
Interprets	gehoorfunctie

Finding site	structuur van auditief systeem
Occurrence	congenitaal

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to Orphanet simple map

3241

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0
Correlation	SNOMED CT source code to target map code correlation not specified