Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4667409013 | Combined immunodeficiency due to IL2 inducible T cell kinase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667411016 | Combined immunodeficiency due to ITK deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667412011 | Autosomal recessive lymphoproliferative disease due to ITK deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667656019 | Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667657011 | Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667413018 | A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, haemophagocytic lymphohistiocytosis and smooth muscle tumour. Patients present with persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathy and hepatosplenomegaly accompanied by a high EBV viral load in the blood. Additional manifestations are autoimmune diseases like haemolytic anaemia or renal disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4667414012 | A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis and smooth muscle tumor. Patients present with persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathy and hepatosplenomegaly accompanied by a high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined immunodeficiency due to ITK deficiency | est un(e) (attribut) | trouble lymphoprolifératif | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to ITK deficiency | est un(e) (attribut) | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to ITK deficiency | est un(e) (attribut) | syndrome familial avec prédisposition aux cancers (trouble) | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to ITK deficiency | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to ITK deficiency | morphologie associée (attribut) | Lymphoproliferative disorder (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Combined immunodeficiency due to ITK deficiency | Pathological process (attribute) | Dysregulated host response | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR