Cortical cataract
Dominant hereditary optic atrophy
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Autosomal dominant optic atrophy and cataract (disorder)
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
A form of autosomal dominant optic atrophy with characteristics of early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. Caused by mutations in the OPA3 gene (19q13.32).
autosomaal dominante opticusatrofie en cataract
autosomaal dominante opticusatrofie type 3
Id719517009
StatusPrimitive
Associated morphologyPrimary atrophy
Finding siteOptic nerve structure
Associated morphologyOpacity
Finding siteStructure of cortex of lens
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetH47.2
RuleTRUE
AdviceALWAYS H47.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH26.9
RuleTRUE
AdviceALWAYS H26.9
CorrelationSNOMED CT source code to target map code correlation not specified