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 |
| 3442833012 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442834018 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442835017 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442836016 | A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive. | 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 partial interferon gamma receptor 1 deficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | est un(e) (attribut) | Mendelian susceptibility to mycobacterial disease | true | Inferred relationship | Some | ||
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | Due to | anomalie chromosomique | false | Inferred relationship | Some | 1 | |
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | est un(e) (attribut) | Immunodeficiency associated with chromosomal abnormality | false | Inferred relationship | Some | ||
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR