autosomaal recessieve hereditaire aandoening	hereditaire opticusatrofie	mitochondriale cytopathie
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autosomaal recessieve opticusatrofie type 7 (aandoening)
	autosomaal recessieve opticusatrofie type 7
	autosomaal recessieve atrofie van nervus opticus type 7
	Autosomal recessive optic atrophy type 7
	Autosomal recessive optic atrophy OPA7 type Autosomal recessive optic atrophy OPA7 (optic atrophy type 7)
	A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.

Id	783065004
Status	Primitive

Associated morphology	primaire atrofie
Finding site	structuur van nervus opticus

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	H47.2
Term	Opticusatrofie

SNOMED CT to Orphanet simple map

227976

SNOMED CT to ICD-10 extended map

Target	H47.2
Rule	TRUE
Advice	ALWAYS H47.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified