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 |
| 356685014 | Fumarase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5286050014 | Fumarate hydratase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5286051013 | Fumarate hydratase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fumarate hydratase deficiency | Is a | Disorder of pyruvate metabolism and mitochondrial respiratory chain | true | Inferred relationship | Some | ||
| Fumarate hydratase deficiency | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Fumarate hydratase deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Fumarate hydratase deficiency | Is a | Specific enzyme deficiency | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR