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 |
| 4696009019 | CTLA-4 haploinsufficiency with autoimmune infiltration disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696010012 | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4696011011 | Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4696012016 | Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4696013014 | A rare primary immunodeficiency characterised by variable combination of enteropathy, hypogammaglobulinaemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune haemolytic anaemia and lymphadenopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696014015 | A rare primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | Is a | Autoimmune lymphoproliferative syndrome | true | Inferred relationship | Some | ||
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | Finding site | Lymphocyte | true | Inferred relationship | Some | 1 | |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | Associated morphology | Lymphoproliferative disorder (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | Is a | Autoimmune disease | true | Inferred relationship | Some | ||
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR