aandoening van perifere zenuw
autosomaal dominante opticusatrofie
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syndroom van autosomaal dominante opticusatrofie en perifere neuropathie (aandoening)
syndroom van autosomaal dominante opticusatrofie en perifere neuropathie
Autosomal dominant optic atrophy and peripheral neuropathy syndrome
A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
Id717975006
StatusPrimitive
Finding sitestructuur van perifere zenuw
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map250932
SNOMED CT to ICD-10 extended map
TargetH47.2
RuleTRUE
AdviceALWAYS H47.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified