Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5378422015 | AR-HIES (autosomal recessive hyperimmunoglobulin E syndrome) due to ZNF341 deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5378423013 | Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5378424019 | Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5378425018 | Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5378426017 | A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Chronic disease of skin | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Immunoglobulin above reference range (finding) | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Chronic mucocutaneous candidiasis | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Atopic dermatitis | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Chronic disease of immune function (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Clinical course | Chronic | true | Inferred relationship | Some | 4 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Associated with | Atopy | true | Inferred relationship | Some | 6 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 5 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Interprets | Immunoglobulin E measurement | true | Inferred relationship | Some | 3 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Finding site | Structure of skin and/or mucous membrane (body structure) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Pathological process (attribute) | Infectious process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | Causative agent | Candida | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR