Disorder of branched-chain amino acid metabolism (disorder)
| Code | 116020001 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
237911005Disorder of amino acid and organic acid metabolism
disorder
2379500093-Methylglutaconic aciduria
disorder
771448004Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
disorder
124258007Deficiency of acetyl-CoA acetyltransferase
disorder
782828005Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
disorder
444755001Disorder of isoleucine metabolism
disorder
444756000Disorder of valine metabolism
disorder
764456001Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
disorder
24013007Hyperleucinaemia
disorder
7046009Hyperleucine-isoleucinaemia
disorder
52270006Intermittent branched-chain ketonuria
disorder
87827003Isovaleryl-CoA dehydrogenase deficiency
disorder
27718001Maple syrup urine disease
disorder
13144005Methylcrotonyl-CoA carboxylase deficiency
disorder
42393006Methylmalonic acidaemia
disorder
69080001Propionic acidaemia
disorder