Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4667415013 | Combined immunodeficiency due to CD70 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667416014 | Combined immunodeficiency due to CD70 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5399516014 | A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399517017 | A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinaemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined immunodeficiency due to CD70 deficiency (disorder) | Is a | Lymphoproliferative disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CD70 deficiency (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CD70 deficiency (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CD70 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to CD70 deficiency (disorder) | Associated morphology | Lymphoproliferative disorder (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Combined immunodeficiency due to CD70 deficiency (disorder) | Pathological process (attribute) | Dysregulated host response | 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