Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3758267019 | Hyper-IgM syndrome without susceptibility to opportunistic infections | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3758271016 | Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3758272011 | Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3758268012 | A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 1 | |
| Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | Is a | Hyperimmunoglobulin M syndrome | true | Inferred relationship | Some | ||
| Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder) | Is a | True | Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | Inferred relationship | Some | |
| Autosomal dominant hyperimmunoglobulin M syndrome due to AID deficiency | Is a | True | Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | Inferred relationship | Some | |
| Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder) | Is a | True | Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR