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315058005: Hereditary nonpolyposis colon cancer (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2972086014 Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
459527013 Hereditary nonpolyposis colon cancer en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
459528015 HNPCC - hereditary nonpolyposis colon cancer en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
711910018 Hereditary nonpolyposis colon cancer (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2971230015 HNPCC - hereditary nonpolyposis colorectal cancer en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
934781000195119 cancro del colon ereditario non poliposico it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
969571000172113 cancer colorectal familial sans polypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1005151000172117 cancer du côlon héréditaire non polyposique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


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

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