Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2872043010 | Deficiency of 2-methylbutyryl-CoA dehydrogenase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2971304016 | Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2971863018 | Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4818371000005110 | 2-methylbutyryl-CoA-dehydrogenasemangel | da | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | Is a | Specific enzyme deficiency (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 2-methylbutyrylglycinuri | Due to | False | Deficiency of 2-methylbutyryl-CoA dehydrogenase | Inferred relationship | Some | 1 |
| A rare organic aciduria with characteristics of impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. | Due to | True | Deficiency of 2-methylbutyryl-CoA dehydrogenase | Inferred relationship | Some | 2 |
This concept is not in any reference sets
FHIR