| syndroom van autisme en epilepsie door deficiëntie van vertakteketen-ketozuurdehydrogenasekinase (aandoening) | | syndroom van autisme en epilepsie door deficiëntie van vertakteketen-ketozuurdehydrogenasekinase | | syndroom van autisme en epilepsie door vertakteketen-ketozuurdehydrogenasekinasedeficiëntie
syndroom van autisme en epilepsie door tekort aan vertakteketen-ketozuurdehydrogenasekinase
| | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | | A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. |
| | Id | 771448004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E71.1 | | Term | Overige gespecificeerde stofwisselingsstoornissen van aminozuren met vertakte keten |
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| SNOMED CT to Orphanet simple map | 308410 |
| SNOMED CT to ICD-10 extended map | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | 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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