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syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie (aandoening)
syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie
ADCA-DN-syndroom
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
Id722293005
StatusPrimitive
Has interpretationgestoord
Interpretsgehoorfunctie
Associated morphologyatrofische degeneratie
Finding sitestructuur van cerebellum
Dutch mental health diagnoses simple reference set
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.2
TermLaat optredende cerebellaire ataxie
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
TargetG47.4
TermNarcolepsie en kataplexie
TargetF03
TermNiet gespecificeerde dementie
SNOMED CT to Orphanet simple map314404
SNOMED CT to ICD-10 extended map
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified