Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 393051010 | Single gene defect | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 656842014 | Single gene defect (qualifier value) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Single gene defect | Is a | Origins | true | Inferred relationship | Some | ||
| Single gene defect | Is a | Pathogeneses | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Qualifier value foundation reference set
Description inactivation indicator reference set
FHIR