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syndroom van spinale musculaire atrofie met progressieve myoklonische epilepsie (aandoening)
syndroom van spinale musculaire atrofie met progressieve myoklonische epilepsie
syndroom van erfelijke myoclonus met progressieve distale musculaire atrofie
syndroom van hereditaire myoklonie met progressieve distale spieratrofie
syndroom van Jankovic-Rivera
Spinal muscular atrophy with progressive myoclonic epilepsy
Jankovic-Rivera syndrome
Hereditary myoclonus with progressive distal muscular atrophy
Id703524005
StatusPrimitive
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG25.3
TermMyoclonus
TargetG12.2
TermZiekte van motorische neuronen
TargetG40.3
TermGegeneraliseerde idiopathische epilepsie en epileptische syndromen
SNOMED CT to Orphanet simple map2590
SNOMED CT to ICD-10 extended map
TargetG25.3
RuleTRUE
AdviceALWAYS G25.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG12.1
RuleTRUE
AdviceALWAYS G12.1
CorrelationSNOMED CT source code to target map code correlation not specified