Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657185019 | SCIDX1 - severe combined immunodeficiency X-linked | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657186018 | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657187010 | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657188017 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657190016 | A form of severe combined immunodeficiency (SCID) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657191017 | A form of severe combined immunodeficiency (SCID) characterised by severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhoea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinaemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4138181000052117 | T-cellsnegativ B-cellspositiv svår kombinerad immunbristsjukdom orsakad av brist på gammakedja | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | Is a | Severe combined immunodeficiency disease | true | Inferred relationship | Some | ||
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | Is a | Disorder of immune structure (disorder) | true | Inferred relationship | Some | ||
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 2 | |
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | 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