Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3725358015 | PLCG2-associated antibody deficiency and immune dysregulation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725359011 | PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725360018 | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3725361019 | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3725362014 | FACU - familial atypical cold urticaria | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725363016 | Familial cold urticaria with common variable immunodeficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725364010 | A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725365011 | A rare hereditary immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| PLCG2-associated antibody deficiency and immune dysregulation | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| PLCG2-associated antibody deficiency and immune dysregulation | Causative agent | Low temperature | true | Inferred relationship | Some | 1 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Is a | Hereditary disorder of immune system | false | Inferred relationship | Some | ||
| PLCG2-associated antibody deficiency and immune dysregulation | Associated morphology | Urticaria | true | Inferred relationship | Some | 1 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some | ||
| PLCG2-associated antibody deficiency and immune dysregulation | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Is a | Familial cold urticaria | true | Inferred relationship | Some | ||
| PLCG2-associated antibody deficiency and immune dysregulation | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Associated morphology | Inflammatory morphology (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Clinical course | Recurrent | true | Inferred relationship | Some | 4 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Associated with | Fever (finding) | false | Inferred relationship | Some | 3 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Interprets | Body temperature (observable entity) | true | Inferred relationship | Some | 3 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| PLCG2-associated antibody deficiency and immune dysregulation | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR