Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3662993011 | Combined immunodeficiency due to OX40 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3662994017 | Combined immunodeficiency due to OX40 deficiency (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3662996015 | Combined immunodeficiency with childhood-onset Kaposi sarcoma | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3662997012 | A rare combined T and B cell immunodeficiency with characteristics of susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. There is evidence the disease is caused by homozygous mutation in the OX40 gene (TNFRSF4) on chromosome 1p36. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Combined immunodeficiency due to OX40 deficiency | Pathological process | Abnormal immune process | true | Inferred relationship | Some | 3 | |
Combined immunodeficiency due to OX40 deficiency | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
Combined immunodeficiency due to OX40 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Combined immunodeficiency due to OX40 deficiency | Is a | Disorder of immune structure | true | Inferred relationship | Some | ||
Combined immunodeficiency due to OX40 deficiency | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
Combined immunodeficiency due to OX40 deficiency | Is a | Hereditary neoplastic syndrome | true | Inferred relationship | Some | ||
Combined immunodeficiency due to OX40 deficiency | Finding site | Structure of immune system | true | Inferred relationship | Some | 1 | |
Combined immunodeficiency due to OX40 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Combined immunodeficiency due to OX40 deficiency | Due to | Chromosomal disorder | true | Inferred relationship | Some | 2 | |
Combined immunodeficiency due to OX40 deficiency | Is a | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
Combined immunodeficiency due to OX40 deficiency | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set