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 |
| 3643070016 | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643071017 | Severe combined immunodeficiency due to CTPS1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3643072012 | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404119012 | A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404120018 | A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterised by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalised varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe combined immunodeficiency due to CTPS1 deficiency | Is a | Severe combined immunodeficiency with low T- and B-cell numbers | true | Inferred relationship | Some | ||
| Severe combined immunodeficiency due to CTPS1 deficiency | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Severe combined immunodeficiency due to CTPS1 deficiency | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to CTPS1 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to CTPS1 deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR