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 |
| 75237014 | Sepiapterin reductase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 75238016 | 7,8-Dihydrobiopterin synthetase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 782320012 | Sepiapterin reductase 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 |
| Sepiapterin reductase deficiency | Is a | Disorder of tetrahydrobiopterin metabolism | true | Inferred relationship | Some | ||
| Sepiapterin reductase deficiency | Is a | Enzymopathy | true | Inferred relationship | Some | ||
| Sepiapterin reductase deficiency | Is a | Hyperphenylalaninemia | true | Inferred relationship | Some | ||
| Sepiapterin reductase deficiency | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Sepiapterin reductase deficiency | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder) | Due to | True | Sepiapterin reductase deficiency | Inferred relationship | Some | 1 |
Reference Sets
Description inactivation indicator reference set
FHIR