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epileptische encefalopathie met gegeneraliseerde cerebrale demyelinisatie (aandoening)
epileptische encefalopathie met gegeneraliseerde cerebrale demyelinisatie
Epileptic encephalopathy with global cerebral demyelination
Mitochondrial aspartate-glutamate carrier 1 deficiency
A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
Id726702005
StatusPrimitive
Associated morphologyhypomyelinisatie
Finding sitestructuur van cerebrum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified