syndroom van epilepsie en verstandelijke beperking beperkt tot vrouwen (aandoening) | | syndroom van epilepsie en verstandelijke beperking beperkt tot vrouwen | | syndroom van epilepsie en mentale retardatie beperkt tot vrouwen syndroom van epilepsie en verstandelijke handicap beperkt tot vrouwen
| | Female restricted epilepsy with intellectual disability syndrome | | A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance. |
| Id | 716706009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 101039 |
SNOMED CT to ICD-10 extended map | Target | G40.8 | Rule | TRUE | Advice | ALWAYS G40.8 | 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 |
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