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Intellectual disability, epilepsy, extrapyramidal syndrome (disorder)
Intellectual disability, epilepsy, extrapyramidal syndrome
A rare genetic neurological disorder with characteristics of hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.
syndroom van verstandelijke beperking, epilepsie en extrapiramidale ziekte
syndroom van mentale retardatie, epilepsie en extrapiramidale ziekte
syndroom van verstandelijke handicap, epilepsie en extrapiramidale ziekte
Id1187210007
StatusPrimitive
InterpretsMuscle tone
Finding siteSkeletal muscle structure
OccurrenceInfancy
OccurrenceInfancy
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetF78.8
RuleTRUE
AdviceALWAYS F78.8
CorrelationSNOMED CT source code to target map code correlation not specified