Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4636361010 | Autosomal recessive primary immunodeficiency due to RORC mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5033731012 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5033732017 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5033733010 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5033734016 | Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4636370013 | A rare primary immunodeficiency with characteristics of increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) | Is a | Mendelian susceptibility to mycobacterial disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR