| syndroom van focale epilepsie, verstandelijke beperking en cerebrocerebellaire malformatie (aandoening) | | syndroom van focale epilepsie, verstandelijke beperking en cerebrocerebellaire malformatie | | syndroom van focale epilepsie, mentale retardatie, dysartrie en ataxie
syndroom van focale epilepsie, verstandelijke handicap en cerebrocerebellaire malformatie
syndroom van focale epilepsie, mentale retardatie en cerebrocerebellaire malformatie
| | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome | | Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome
| | A rare genetic neurological disorder with early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura. When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed. |
| | Id | 765089003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.8 | | Term | Overige gespecificeerde congenitale misvormingen van hersenen |
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| SNOMED CT to Orphanet simple map | 352587 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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