Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4667400012 | Combined immunodeficiency due to CARMIL2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667401011 | Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667402016 | Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667403014 | Combined immunodeficiency due to RLTPR deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667405019 | A rare immune dysregulation disease with immunodeficiency with characteristics of infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal and viral infections with involvement of the skin, lower respiratory tract, gastrointestinal tract, eczema, allergies and inflammatory bowel disease. Epstein-Barr related smooth muscle neoplasms have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells. | 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 CARMIL2 deficiency | est un(e) (attribut) | trouble lymphoprolifératif | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CARMIL2 deficiency | est un(e) (attribut) | syndrome familial avec prédisposition aux cancers (trouble) | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CARMIL2 deficiency | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CARMIL2 deficiency | morphologie associée (attribut) | Lymphoproliferative disorder (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Combined immunodeficiency due to CARMIL2 deficiency | est un(e) (attribut) | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CARMIL2 deficiency | Pathological process (attribute) | Dysregulated host response | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR