oculocutaan albinisme
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oculocutaan albinisme type 5 (aandoening)
oculocutaan albinisme type 5
OCA5
Oculocutaneous albinism type 5
A type of oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on chromosome 4q24 but the gene has not yet been discovered.
Id722057000
StatusPrimitive
Associated morphologyverminderde melaninepigmentatie
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverminderde melaninepigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE70.3
TermAlbinisme
SNOMED CT to Orphanet simple map370091
SNOMED CT to ICD-10 extended map
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3
CorrelationSNOMED CT source code to target map code correlation not specified