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autosomaal dominante opticusatrofie-plussyndroom (aandoening)
autosomaal dominante opticusatrofie-plussyndroom
ADOA-plus
Autosomal dominant optic atrophy plus syndrome
ADOA (autosomal dominant optic atrophy) plus
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.
Id715374003
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
SNOMED CT to Orphanet simple map1215
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