Oculocutaneous albinism
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Oculocutaneous albinism type 5 (disorder)
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.
oculocutaan albinisme type 5
OCA5
Id722057000
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