Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Is a | Primary malignant neoplasm of colon | true | Inferred relationship | Some | ||
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Pathological process | Malignant neoplastic process | false | Inferred relationship | Some | ||
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Associated morphology | Malignant neoplasm, primary | false | Inferred relationship | Some | 1 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Finding site | Colon structure | false | Inferred relationship | Some | 2 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Associated morphology | néoplasie maligne (morphologie) | false | Inferred relationship | Some | 2 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Finding site | Structure of large intestine (body structure) | false | Inferred relationship | Some | 1 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Finding site | Structure of large intestine (body structure) | false | Inferred relationship | Some | 1 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Associated morphology | Malignant neoplasm, primary | false | Inferred relationship | Some | 1 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Finding site | Colon structure | false | Inferred relationship | Some | 2 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Associated morphology | néoplasie maligne (morphologie) | false | Inferred relationship | Some | 2 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Associated morphology | Malignant neoplasm, primary | false | Inferred relationship | Some | 3 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Finding site | Colon structure | false | Inferred relationship | Some | 3 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Is a | Autosomal dominant hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Finding site | Colon structure | true | Inferred relationship | Some | 1 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Associated morphology | Malignant neoplasm (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Pathological process (attribute) | Malignant proliferation of primary neoplasm (qualifier value) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Family history of hereditary nonpolyposis colon cancer | Associated finding | True | Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Inferred relationship | Some | 1 |
Non-polyposis Turcot syndrome | Is a | False | Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Inferred relationship | Some | |
A rare inherited cancer-predisposing syndrome characterized by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes. | Is a | True | Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | Inferred relationship | Some |
This concept is not in any reference sets