| syndroom van verstandelijke beperking, epilepsie en extrapiramidale ziekte (aandoening) | | syndroom van verstandelijke beperking, epilepsie en extrapiramidale ziekte | | syndroom van mentale retardatie, epilepsie en extrapiramidale ziekte
syndroom van verstandelijke handicap, epilepsie en extrapiramidale ziekte
| | 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. |
| | Id | 1187210007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 468620 |
| SNOMED CT to ICD-10 extended map | | Target | F78.8 | | Rule | TRUE | | Advice | ALWAYS F78.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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