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Ocular albinism with late-onset sensorineural deafness (disorder)
Ocular albinism with late-onset sensorineural deafness
A rare X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date with characteristics of severe visual impairment, translucent pale-blue irides, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.
oculair albinisme met laat optredende sensorineurale doofheid
Id722054007
StatusPrimitive
Associated morphologyDecreased melanin pigmentation
Finding siteEye structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationImpaired
InterpretsHearing
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
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified