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 |
| 2871840012 | Deficiency of isobutyryl-CoA dehydrogenase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2971534013 | Deficiency of isobutyryl-coenzyme A dehydrogenase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2971795010 | Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4818881000005116 | isobutyryl-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 isobutyryl-CoA dehydrogenase | Is a | Specific enzyme deficiency (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Isobutyrylglycinuria (disorder) | Due to | True | Deficiency of isobutyryl-CoA dehydrogenase | Inferred relationship | Some | 1 |
| An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). | Due to | True | Deficiency of isobutyryl-CoA dehydrogenase | Inferred relationship | Some | 2 |
This concept is not in any reference sets
FHIR