| 3-methylcrotonylglycinurie (aandoening) | | 3-methylcrotonylglycinurie | | 3-methylcrotonyl-CoA-carboxylasedeficiëntie
|  | Dit betekent dat je lichaam een bepaalde stof niet goed kan afbreken. Hierdoor hoopt deze stof zich op in je lichaam. Dit kan voor problemen zorgen. | | Methylcrotonyl-CoA carboxylase deficiency | | 3-Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-coenzyme A carboxylase deficiency
beta-Methylcrotonylglycinuria, type 1
MCC deficiency
BMCC deficiency
| | A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. |
| | Id | 13144005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E71.2 | | Term | Stofwisselingsstoornis van aminozuren met vertakte keten, niet gespecificeerd |
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| 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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