Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755608016 | Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755609012 | Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755610019 | Severe combined immunodeficiency due to IKK2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755612010 | A rare genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. There is evidence the disease is caused by homozygous mutation in the IKBKB gene on chromosome 8p11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755613017 | A rare genetic form of primary immunodeficiency characterised by life-threatening bacterial, fungal and viral infections with the onset in infancy and failure to thrive. Typically, hypogammaglobulinaemia or agammaglobulinaemia and normal levels of T and B cells are present. There is evidence the disease is caused by homozygous mutation in the IKBKB gene on chromosome 8p11. | 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 inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) | Finding site | Body system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR