Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5315697014 | Isobutyric aciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5315698016 | Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5315700013 | Isobutyryl-CoA dehydrogenase deficiency disease | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5315711017 | ACAD8-gene related deficiency of isobutyryl-coenzyme A dehydrogenase | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5315718011 | Isobutyryl-coenzyme A dehydrogenase deficiency disease | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5315712012 | 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). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5315713019 | An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programmes relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) | Is a | Inborn error of amino acid metabolism | true | Inferred relationship | Some | ||
| Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) | Is a | Disorder of valine metabolism (disorder) | true | Inferred relationship | Some | ||
| Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) | Due to | Deficiency of isobutyryl-CoA dehydrogenase | true | Inferred relationship | Some | 2 | |
| Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR