congenitale afwijking van zenuwstelsel	polymalformatief syndroom met ongebruikelijke cerebrale en/of neuromusculaire bevinding
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cerebro-oculofacioskeletaal syndroom (aandoening)
	cerebro-oculofacioskeletaal syndroom
	syndroom van Pena-Shokeir type 2 CAMAK-syndroom syndroom van cataract, microcefalie, groeifalen en kyfoscoliose CAMFAK-syndroom Pena-Shokeir-syndroom type 2 COFS-syndroom syndroom van cataract, microcefalie, artrogrypose en kyfose
	Cerebro-oculo-facio-skeletal syndrome
	COFS - Cerebro-oculo-facio-skeletal syndrome Pena-Shokeir syndrome type 2 COFS syndrome CAMAK - Cerebro-oculo-facio-skeletal syndrome CAMFAK - Cerebro-oculo-facio-skeletal syndrome

Id	41283003
Status	Primitive

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

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

1466

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