oculocutaan albinisme
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oculocutaan albinisme type 6 (aandoening)
oculocutaan albinisme type 6
OCA6
Oculocutaneous albinism type 6
A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Caused by mutations in the SLC24A5 gene (15q21.1).
Id722058005
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 map370097
SNOMED CT to ICD-10 extended map
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3
CorrelationSNOMED CT source code to target map code correlation not specified