| X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie (aandoening) | | X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie | | X-gebonden syndroom van spasticiteit, verstandelijke handicap en epilepsie
X-gebonden syndroom van spasticiteit, mentale retardatie en epilepsie
| | X-linked spasticity, intellectual disability, epilepsy syndrome | | A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported. |
| | Id | 725163002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G40.3 | | Term | Gegeneraliseerde idiopathische epilepsie en epileptische syndromen |
| Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
| Target | R25.2 | | Term | Kramp en spasme |
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| SNOMED CT to Orphanet simple map | 3175 |
| SNOMED CT to ICD-10 extended map | | Target | G40.3 | | Rule | TRUE | | Advice | ALWAYS G40.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | F79.9 | | Rule | TRUE | | Advice | ALWAYS F79.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | R25.2 | | Rule | TRUE | | Advice | ALWAYS R25.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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