Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4212725015 | Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4212726019 | Genetic susceptibility to malignant hyperthermia due to RYR1 (ryanodine receptor 1) gene mutation positive | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5181116015 | Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5181117012 | Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 12132381000146114 | genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor ryanodinereceptor 1 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12132391000146111 | genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor ryanodinereceptor 1 (bevinding) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12132401000146114 | genetische gevoeligheid voor maligne hyperthermie door RYR1-genmutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12132411000146111 | RYR1-genmutatie positief met genetische gevoeligheid voor maligne hyperthermie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation | Is a | Genetic susceptibility to malignant hyperthermia (finding) | true | Inferred relationship | Some | ||
| Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation | Has interpretation | Positive | false | Inferred relationship | Some | 1 | |
| Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation | Interprets | Genetic test (procedure) | false | Inferred relationship | Some | 1 | |
| Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation | Is a | Genetic finding detected | true | Inferred relationship | Some | ||
| Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation | Interprets | Genetic test (procedure) | true | Inferred relationship | Some | 2 | |
| Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation | Has interpretation | Detected | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR