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 |
| 3736376014 | Autoinflammation 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 |
| 3736377017 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736378010 | APLAID - autoinflammation 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 |
| 3736379019 | Autoinflammation 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 |
| 3736380016 | A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Is a | Autoimmune disease | true | Inferred relationship | Some | ||
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Is a | Inflammatory disorder | false | Inferred relationship | Some | ||
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Associated morphology | Inflammation | false | Inferred relationship | Some | 1 | |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Pathological process (attribute) | Autoimmune process | false | Inferred relationship | Some | 1 | |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Is a | Autoinflammatory disease (disorder) | true | Inferred relationship | Some | ||
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 2 | |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 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