Autosomal recessive hereditary disorder	Congenital anomaly of hair	Congenital deficiency of pigment of skin	Developmental hereditary disorder	Genetic disorder of skin pigmentation
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Oculocerebral hypopigmentation syndrome of Preus type (disorder)
	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.
	oculocerebraal hypopigmentatiesyndroom Preus-type

Id	716174001
Status	Primitive

Associated morphology	Hypopigmentation
Finding site	Hair structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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