Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3439257019 | Combined immunodeficiency due to CD3gamma deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3439258012 | Combined immunodeficiency due to CD3gamma deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3439259016 | Combined immunodeficiency due to CD3-gamma deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5403403019 | A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403404013 | A rare autosomal recessive primary immunodeficiency characterised by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined immunodeficiency due to CD3gamma deficiency (disorder) | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CD3gamma deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Combined immunodeficiency due to CD3gamma deficiency (disorder) | Finding site | Body system structure | true | Inferred relationship | Some | 2 | |
| Combined immunodeficiency due to CD3gamma deficiency (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Combined immunodeficiency due to CD3gamma deficiency (disorder) | 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