Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3706599010 | Severe combined immunodeficiency due to CARD11 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706600013 | Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706601012 | Severe combined immunodeficiency due to CARD11 (caspase recruitment domain family member 11) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706602017 | Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706603010 | A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777458017 | A rare combined T and B cell immunodeficiency characterised by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinaemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22. | 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 caspase recruitment domain family member 11 deficiency | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency | Finding site | Body system structure | false | Inferred relationship | Some | 1 | |
| Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | false | Inferred relationship | Some | ||
| Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR