Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5406604010 | Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406605011 | Stüve Wiedemann syndrome type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5406606012 | Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5406607015 | Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406608013 | Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5406609017 | Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5406610010 | Autosomal recessive combined immunodeficiency due to GP130 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406623015 | Autosomal recessive hyperimmunoglobulin E syndrome due to complete IL6ST deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Is a | Hyperimmunoglobulin E syndrome | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Is a | Bent bone dysplasia group | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Interprets | Immunoglobulin E measurement | true | Inferred relationship | Some | 2 | |
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR