| syndroom van verstandelijke beperking, hyperkinesie en rompataxie (aandoening) | | syndroom van verstandelijke beperking, hyperkinesie en rompataxie | | syndroom van mentale retardatie, hyperkinesie en rompataxie
syndroom van verstandelijke handicap, hyperkinesie en rompataxie
| | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome | | A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported. |
| | Id | 787174003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G25.5 | | Term | Overige vormen van chorea |
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| SNOMED CT to Orphanet simple map | 369847 |
| SNOMED CT to ICD-10 extended map | | Target | G25.5 | | Rule | TRUE | | Advice | ALWAYS G25.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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