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periorale myoklonie met absences (aandoening)
periorale myoklonie met absences
periorale myoclonus met absences
Perioral myoclonia with absences
POMA - perioral myoclonia with absences
A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.
Id766815007
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG40.4
TermOverige vormen van gegeneraliseerde epilepsie en epileptische syndromen
SNOMED CT to Orphanet simple map139426
SNOMED CT to ICD-10 extended map
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4
CorrelationSNOMED CT source code to target map code correlation not specified