Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5470823017 | Deficiency of ALG14 UDP-N-acetylglucosamine transferase (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5470824011 | Deficiency of ALG14 UDP-N-acetylglucosamine transferase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of ALG14 UDP-N-acetylglucosamine transferase (disorder) | Is a | Specific enzyme deficiency | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation | Due to | True | Deficiency of ALG14 UDP-N-acetylglucosamine transferase (disorder) | Inferred relationship | Some | 4 |
This concept is not in any reference sets
FHIR