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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5422227015 | Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422228013 | Autosomal dominant combined variable immunodeficiency due to SEC61A1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422229017 | Autosomal dominant CVID (combined variable immunodeficiency) due to SEC61A1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422230010 | Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422231014 | Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation | 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 |
| Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) | Is a | Common variable immunodeficiency | true | Inferred relationship | Some | ||
| Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets