Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756960017 | Genetic disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 3756961018 | Genetic disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Genetic disease | Is a | Disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Neurofibromatosis type 2 | Is a | True | Genetic disease | Inferred relationship | Some | |
| Hereditary disease | Is a | True | Genetic disease | Inferred relationship | Some | |
| Osteogenesis imperfecta | Is a | True | Genetic disease | Inferred relationship | Some | |
| Multiple endocrine neoplasia, type 1 | Is a | True | Genetic disease | Inferred relationship | Some | |
| Malignant hyperthermia | Is a | True | Genetic disease | Inferred relationship | Some | |
| Hemolytic uremic syndrome | Is a | True | Genetic disease | Inferred relationship | Some | |
| Muscular dystrophy (disorder) | Is a | True | Genetic disease | Inferred relationship | Some |
Reference Sets
FHIR