autosomaal recessieve hereditaire aandoening	congenitale afwijking van haar	congenitale hypopigmentatie van huid	genetische aandoening van huidpigmentatie	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis
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oculocerebraal hypopigmentatiesyndroom Preus-type (aandoening)
	oculocerebraal hypopigmentatiesyndroom Preus-type
	Oculocerebral hypopigmentation syndrome of Preus type
	Oculocerebral hypopigmentation syndrome of Preus
	A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.

Id	716174001
Status	Primitive

Associated morphology	hypopigmentatie
Finding site	structuur van pilus
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	Q84.8
Term	Overige gespecificeerde congenitale misvormingen van huidadnexen

SNOMED CT to Orphanet simple map

2720

SNOMED CT to ICD-10 extended map

Target	Q84.8
Rule	TRUE
Advice	ALWAYS Q84.8
Correlation	SNOMED CT source code to target map code correlation not specified