Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4696017010 | STAT3-related early-onset multisystem autoimmune disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696018017 | Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4696019013 | Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4696020019 | A rare genetic lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696021015 | A rare genetic lymphoproliferative syndrome characterised by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including haemolytic anaemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinaemia, and reduction in memory B cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5608501000052116 | tidigt debuterande STAT3-relaterad multisystemisk autoimmun sjukdom | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| STAT3-related early-onset multisystem autoimmune disease | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| STAT3-related early-onset multisystem autoimmune disease | Is a | Autoimmune lymphoproliferative syndrome | true | Inferred relationship | Some | ||
| STAT3-related early-onset multisystem autoimmune disease | Is a | Autoimmune disease | true | Inferred relationship | Some | ||
| STAT3-related early-onset multisystem autoimmune disease | Finding site | Lymphocyte | true | Inferred relationship | Some | 1 | |
| STAT3-related early-onset multisystem autoimmune disease | Associated morphology | Lymphoproliferative disorder (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| STAT3-related early-onset multisystem autoimmune disease | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 1 | |
| STAT3-related early-onset multisystem autoimmune disease | Is a | Systemic disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR