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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 form of autosomal dominant optic atrophy with characteristics of progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
Id717975006
StatusPrimitive
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH47.2
TermOpticusatrofie
TargetG62.9
TermPolyneuropathie, niet gespecificeerd
SNOMED CT to Orphanet simple map250932
SNOMED CT to ICD-10 extended map
TargetH47.2
RuleTRUE
AdviceALWAYS H47.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG62.9
RuleTRUE
AdviceALWAYS G62.9
CorrelationSNOMED CT source code to target map code correlation not specified