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 |
101277019 | Urocanate hydratase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
101278012 | Urocanic aciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
101279016 | Urocanase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
799961018 | Urocanate 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 |
Urocanate hydratase deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Urocanate hydratase deficiency | Is a | Disorder of histidine metabolism | true | Inferred relationship | Some | ||
Urocanate hydratase deficiency | Is a | Enzymopathy | true | Inferred relationship | Some | ||
Urocanate hydratase deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Urocanate hydratase deficiency | Finding site | Body system structure | false | Inferred relationship | Some | ||
Urocanate hydratase deficiency | Is a | Inborn error of metabolism | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets