Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 437717018 | 3-Methylglutaconic aciduria type 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 692543015 | 3-Methylglutaconic aciduria type 4 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3707061000005115 | 3-methylglutaconaciduri, type 4 | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 3-Methylglutaconic aciduria type 4 | Is a | 3-Methylglutaconic aciduria | true | Inferred relationship | Some | ||
| 3-Methylglutaconic aciduria type 4 | Occurrence | Congenital | false | Inferred relationship | Some | ||
| 3-Methylglutaconic aciduria type 4 | Finding site | Body system structure | false | Inferred relationship | Some | ||
| 3-Methylglutaconic aciduria type 4 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. | Is a | True | 3-Methylglutaconic aciduria type 4 | Inferred relationship | Some |
Reference Sets
Description inactivation indicator reference set
FHIR