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.
Associated morphologyhypopigmentatie
Finding sitestructuur van pilus
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale misvormingen van huidadnexen
SNOMED CT to Orphanet simple map2720
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q84.8
CorrelationSNOMED CT source code to target map code correlation not specified