autosomaal dominante opticusatrofie	corticaal cataract
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autosomaal dominante opticusatrofie en cataract (aandoening)
	autosomaal dominante opticusatrofie en cataract
	autosomaal dominante opticusatrofie type 3
	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).

Id	719517009
Status	Primitive

Associated morphology	primaire atrofie
Finding site	structuur van nervus opticus

Associated morphology	troebeling
Finding site	structuur van cortex lentis

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	H47.2
Term	Opticusatrofie

Target	H26.9
Term	Cataract, niet gespecificeerd

SNOMED CT to Orphanet simple map

67036

SNOMED CT to ICD-10 extended map

Target	H47.2
Rule	TRUE
Advice	ALWAYS H47.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H26.9
Rule	TRUE
Advice	ALWAYS H26.9
Correlation	SNOMED CT source code to target map code correlation not specified