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progressieve myoklonische epilepsie type 5 (aandoening)
progressieve myoklonische epilepsie type 5
PME type 5
progressieve myoclonusepilepsie type 5
Progressive myoclonic epilepsy type 5
PME (progressive myoclonic epilepsy) type 5
Progressive myoclonus epilepsy type 5
A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.
Id783055005
StatusPrimitive
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG40.3
TermGegeneraliseerde idiopathische epilepsie en epileptische syndromen
SNOMED CT to Orphanet simple map402082
SNOMED CT to ICD-10 extended map
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified