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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.
Id716174001
StatusPrimitive
Associated morphologyhypopigmentatie
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ84.8
RuleTRUE
AdviceALWAYS Q84.8
CorrelationSNOMED CT source code to target map code correlation not specified