Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4696302016 | CID-MIA/early-onset IBD - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease | en | Synonym | Active | Case sensitive | SNOMED CT core |
4696305019 | Combined immunodeficiency, enteropathy spectrum | en | Synonym | Active | Case insensitive | SNOMED CT core |
4696306018 | Combined immunodeficiency, enteropathy spectrum (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4696303014 | A rare genetic disease with characteristics of multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of immunoglobulin G, immunoglobulin A, and immunoglobulin M, with elevated serum immunoglobulin E. The disease is mostly fatal in infancy or childhood. | en | Definition | Active | Case sensitive | SNOMED CT core |
4696304015 | A rare genetic disease with characteristics of multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalised T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of immunoglobulin G, immunoglobulin A, and immunoglobulin M, with elevated serum immunoglobulin E. The disease is mostly fatal in infancy or childhood. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Combined immunodeficiency, enteropathy spectrum | Is a | Enteritis of intestine | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Is a | Inflammatory bowel disease | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Is a | Congenital atresia of intestinal tract | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Combined immunodeficiency, enteropathy spectrum | Finding site | Intestinal structure | true | Inferred relationship | Some | 2 | |
Combined immunodeficiency, enteropathy spectrum | Associated morphology | Congenital atresia | true | Inferred relationship | Some | 2 | |
Combined immunodeficiency, enteropathy spectrum | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Combined immunodeficiency, enteropathy spectrum | Finding site | Intestinal structure | true | Inferred relationship | Some | 1 | |
Combined immunodeficiency, enteropathy spectrum | Associated morphology | Inflammatory morphology | true | Inferred relationship | Some | 1 | |
Combined immunodeficiency, enteropathy spectrum | Pathological process | Dysregulated host response | true | Inferred relationship | Some | 1 | |
Combined immunodeficiency, enteropathy spectrum | Is a | Hereditary white blood cell disorder | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Is a | Lymphocytopenia | true | Inferred relationship | Some | ||
Combined immunodeficiency, enteropathy spectrum | Interprets | Lymphocyte count | true | Inferred relationship | Some | 3 | |
Combined immunodeficiency, enteropathy spectrum | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set