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 |
| 5422200019 | Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422201015 | Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422203017 | Autosomal recessive combined variable immunodeficiency due to ARHGEF1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422204011 | Autosomal recessive CVID (combined variable immunodeficiency) due to ARHGEF1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422205012 | Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 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 recessive combined variable immunodeficiency due to ARHGEF1 mutation | Is a | Common variable immunodeficiency | true | Inferred relationship | Some | ||
| Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation | 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
FHIR