Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5065848019 | Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5065849010 | Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5065850010 | Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400080013 | A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400081012 | A rare T-B+ severe combined immunodeficiency characterised by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinaemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | Finding site | Body system structure | false | Inferred relationship | Some | 1 | |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 1 | |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | Is a | T-cell negative B-cell positive severe combined immunodeficiency (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | Finding site | Body system structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR