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progressieve myoklonische epilepsie met dystonie (aandoening)
progressieve myoklonische epilepsie met dystonie
progressieve myoclonusepilepsie met dystonie
Progressive myoclonic epilepsy with dystonia
Progressive myoclonus epilepsy with dystonia
A rare genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
Id763349002
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
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
TargetG24.9
RuleTRUE
AdviceALWAYS G24.9
CorrelationSNOMED CT source code to target map code correlation not specified