Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1778188017 | Deficiency of UTP-hexose-1-phosphate uridylyltransferase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 1786514018 | UTP-hexose-1-phosphate uridyltransferase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2914538014 | Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2914763012 | Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (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 |
| Deficiency of UTP-hexose-1-phosphate uridylyltransferase | est un(e) (attribut) | Deficiency of transferase | true | Inferred relationship | Some | ||
| Deficiency of UTP-hexose-1-phosphate uridylyltransferase | est un(e) (attribut) | Galactosaemia | false | Inferred relationship | Some | ||
| Deficiency of UTP-hexose-1-phosphate uridylyltransferase | localisation d'une constatation (attribut) | structure d'un système corporel | false | Inferred relationship | Some | ||
| Deficiency of UTP-hexose-1-phosphate uridylyltransferase | Causative agent | Uridine triphosphate-hexose-1-phosphate uridylyltransferase (substance) | true | Inferred relationship | Some | 1 | |
| Deficiency of UTP-hexose-1-phosphate uridylyltransferase | est un(e) (attribut) | Drug-related disorder | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Classical galactosemia, homozygous Duarte-type | est un(e) (attribut) | True | Deficiency of UTP-hexose-1-phosphate uridylyltransferase | Inferred relationship | Some | |
| Classical galactosaemia, heterozygous type | est un(e) (attribut) | True | Deficiency of UTP-hexose-1-phosphate uridylyltransferase | Inferred relationship | Some | |
| Classical galactosemia, homozygous Negro-type | est un(e) (attribut) | True | Deficiency of UTP-hexose-1-phosphate uridylyltransferase | Inferred relationship | Some |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR