| 2-methyl-3-hydroxybutaanzuuracidurie (aandoening) | | 2-methyl-3-hydroxybutaanzuuracidurie | | MHBD-deficiëntie
HSD10-ziekte
2-methyl-3-hydroxybutyryl-CoA-dehydrogenasedeficiëntie
| | 2-methyl-3-hydroxybutyric aciduria | | HSD10 disease
| | HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. |
| | Id | 791000124107 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E72.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen van aminozuren |
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| SNOMED CT to Orphanet simple map | 391417 |
| SNOMED CT to ICD-10 extended map | | Target | E72.8 | | Rule | TRUE | | Advice | ALWAYS E72.8 | 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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