Methylmalonic acidemia (disorder)
| Code | 42393006 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
70731005Acidaemia
disorder
116020001Disorder of branched-chain amino acid metabolism
disorder
84618009Disorder of propionate AND/OR methylmalonate metabolism
disorder
26513001Non-amino organic acidaemia AND/OR aciduria
disorder
4409006Adenosylcobalamin and methylcobalamin synthesis defect
disorder
69614003Adenosylcobalamin synthesis defect
disorder
702365002Combined malonic and methylmalonic aciduria
disorder
715338007Fatal infantile lactic acidosis with methylmalonic aciduria
disorder
765137006Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency
disorder
771444002Methylmalonic aciduria due to transcobalamin receptor defect
disorder
1197052008Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
disorder