| malonacidurie (aandoening) | | malonacidurie | | Malonic aciduria | | MLYCD-gene related malonic aciduria
| | A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. |
| | Id | 361203007 | | 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 | 943 |
| SNOMED CT to ICD-10 extended map | | Target | E71.3 | | Rule | TRUE | | Advice | ALWAYS E71.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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