Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311199017 | T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3311208014 | Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3311209018 | Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3311200019 | A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhea and failure to thrive. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3311201015 | A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease is characterised by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3866261000052117 | T-cellsnegativ B-cellspositiv svår kombinerad immunbristsjukdom orsakad av JAK3-brist | 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 JAK3 deficiency | Due to | Genetic mutation | true | Inferred relationship | Some | 1 | |
| T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency | Is a | Autosomal recessive SCID | true | Inferred relationship | Some | ||
| T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency | Finding site | Body system structure | true | Inferred relationship | Some | 2 | |
| T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR