Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2465510016 | Hydroxymethylglutaric aciduria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2471783019 | Hydroxymethylglutaric aciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5438143018 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5438144012 | 3-hydroxy-3-methylglutaric aciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5438145013 | HMG-CoA lyase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hydroxymethylglutaric aciduria (disorder) | Is a | Clinical manifestation of enzyme deficiency (disorder) | true | Inferred relationship | Some | ||
| Hydroxymethylglutaric aciduria (disorder) | Is a | Non-amino organic acidemia AND/OR aciduria | true | Inferred relationship | Some | ||
| Hydroxymethylglutaric aciduria (disorder) | Due to | Deficiency of hydroxymethylglutaryl-CoA lyase | false | Inferred relationship | Some | 1 | |
| Hydroxymethylglutaric aciduria (disorder) | Is a | Fatty acid oxidation defect (disorder) | true | Inferred relationship | Some | ||
| Hydroxymethylglutaric aciduria (disorder) | Due to | Enzymopathy | true | Inferred relationship | Some | 2 | |
| Hydroxymethylglutaric aciduria (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR