Oculocutaneous albinism
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Oculocutaneous albinism type 6 (disorder)
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).
oculocutaan albinisme type 6
OCA6
Id722058005
StatusPrimitive
Associated morphologyDecreased melanin pigmentation
Finding siteEye structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDecreased melanin pigmentation
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3
CorrelationSNOMED CT source code to target map code correlation not specified