| 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 | | This syndrome is characterized by myoclonic epilepsy with generalized spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13). |
| | 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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