| gecombineerde malonzuur- en methylmalonzuuracidurie (aandoening) | | gecombineerde malonzuur- en methylmalonzuuracidurie | | CMAMMA
gecombineerde malon- en methylmalonacidurie
| | Combined malonic and methylmalonic aciduria | | CMAMMA - combined malonic and methylmalonic aciduria
| | A rare inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. |
| | Id | 702365002 | | 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 |
|
| SNOMED CT to Orphanet simple map | 289504 |
| SNOMED CT to ICD-10 extended map | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
