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ataxie met syndroom van retinitis pigmentosa (aandoening)
ataxie met syndroom van retinitis pigmentosa
ataxie met syndroom van tapetoretinale degeneratie
Ataxia with tapetoretinal degeneration syndrome
A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.
Id783203003
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van perifere retina
Associated morphologydegeneratieve afwijking
Finding sitestructuur van choroidea
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.9
TermHereditaire ataxie, niet gespecificeerd
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map1178
SNOMED CT to ICD-10 extended map
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified