[ { "phenotype_id": "PH4122", "phenotype_version_id": 9340, "name": "Benign neoplasm of colon, rectum, anus and anal canal", "definition": "An intestinal benign neoplasm that is located in the colon, rectum, anus or anal canal\n\nUKB baseline self reported fields.\n", "implementation": "The earliest record across all sources is obtained.\n", "publications": [ { "doi": "https://doi.org/10.1038/s41598-025-05838-9", "details": "Torralbo, Ana and Davitte, Jonathan M. and Croteau-Chonka, Damien C. and Ytsma, Cai R. and Tomlinson, Christopher and Fitzpatrick, Natalie and Chung, Sheng-Chia and Fatemifar, Ghazaleh and Cortes, Adrian S. and Richardson, Tom G. and Barclay, Matthew and Carrasco Zanini Sanchez, Julia and Finan, Chris and Hemingway, Harry and Hingorani, Aroon D. and Kuan Po Ai, Valerie and Langenberg, Claudia and Lyratzopoulos, Georgios and Lumbers, Tom and Pietzner, Maik and Shah, Anoop Dinesh and Thygesen, Johan Hilge and Zelenka, Natalie and Whittaker, John C. and Ehm, Margaret G. and Denaxas, Spiros, A Computational Framework for Defining and Validating Reproducible Phenotyping Algorithms of 313 Diseases in the UK Biobank.", "primary": true } ], "validation": "Phenotypes underwent a multi\\-layered validation approach that included a) evaluating data source concordance, b) age\\-sex incidence and baseline prevalence patterns, c) an external comparison to a representative and unselected UK EHR dataset, d) modifiable risk factor associations, and e) genetic correlations with external genome\\-wide association studies (GWAS). Results showed consistent disease distributions by age and sex, high ranked correlation with general population prevalence estimates, confirmed risk factor associations, and significant genetic correlations with external GWAS.\n", "citation_requirements": null, "created": "2026-06-08T20:06:56.673031Z", "author": "Torralbo, A; Davitte, J M; Croteau-Chonka, D C; Ytsma, C; Tomlinson, C; Fitzpatrick, N K; Chung, S C; Fatemifar, G; Cortes, A S; Richardson, T G; Barclay, M; Carrasco Zanini, J; Finan, C; Hemingway, H; Hingorani, A; Kuan, V; Langenberg, C; Lyratzopoulos, G; Lumbers, R T; Pietzner, M; Shah, A D; Thygesen, J H; Zelenka, N; Whittaker, J C; Ehm, M G; Denaxas, S", "collections": [ { "name": "Phenotype Library", "value": 18 }, { "name": "UK Biobank", "value": 32 } ], "tags": null, "organisation": null, "world_access": 1, "updated": "2026-06-08T20:06:56.665473Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Benign neoplasm of large intestine (disorder)", "value": 785738 } ], "phenoflowid": null, "data_sources": [ { "name": "UK Biobank", "value": 13, "uid": "6a9f93ad-2434-41d9-93bf-6e9d2eee04e5", "url": "https://healthdatagateway.org/en/dataset/700", "datasource_id": 700 }, { "name": "Patient Episode Dataset for Wales (PEDW)", "value": 40, "uid": "4c33a5d2-164c-41d7-9797-dc2b008cc852", "url": "https://healthdatagateway.org/en/dataset/318", "datasource_id": 318 }, { "name": "Scottish Cancer Registry (SMR06)", "value": 417, "uid": "ad36dc03-1856-44de-99b0-1af6f312d86b", "url": "https://healthdatagateway.org/en/dataset/79", "datasource_id": 79 }, { "name": "Cancer Registration Data", "value": 788, "uid": "6904a2ff-ab44-4dd6-b9ec-25d3cad29e43", "url": "https://healthdatagateway.org/en/dataset/880", "datasource_id": 880 } ], "endorsements": null, "project_name": null, "coding_system": [ { "name": "UKBioBank codes", "value": 12 }, { "name": "ICD10 codes", "value": 4 }, { "name": "Read codes v3", "value": 6 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 9745, "concept_version_id": 17230, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4122", "phenotype_version_id": 9340, "phenotype_name": "Benign neoplasm of colon, rectum, anus and anal canal", "code_attribute_header": [ "type" ], "codes": [ { "code": "1460", "description": "rectal or colon adenoma/polyps", "attributes": { "type": "any" } } ] }, { "concept_id": 9746, "concept_version_id": 17231, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4122", "phenotype_version_id": 9340, "phenotype_name": "Benign neoplasm of colon, rectum, anus and anal canal", "code_attribute_header": [ "type" ], "codes": [ { "code": "D12", "description": "Benign neoplasm of colon, rectum, anus and anal canal", "attributes": { "type": "any" } }, { "code": "K62.0", "description": "Anal polyp", "attributes": { "type": "any" } }, { "code": "K62.1", "description": "Rectal polyp", "attributes": { "type": "any" } }, { "code": "K63.5", "description": "Polyp of colon", "attributes": { "type": "any" } } ] }, { "concept_id": 9747, "concept_version_id": 17232, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4122", "phenotype_version_id": 9340, "phenotype_name": "Benign neoplasm of colon, rectum, anus and anal canal", "code_attribute_header": [ "type" ], "codes": [ { "code": "D12", "description": "Benign neoplasm of colon, rectum, anus and anal canal", "attributes": { "type": "any" } }, { "code": "K62.0", "description": "Anal polyp", "attributes": { "type": "any" } }, { "code": "K62.1", "description": "Rectal polyp", "attributes": { "type": "any" } }, { "code": "K63.5", "description": "Polyp of colon", "attributes": { "type": "any" } } ] }, { "concept_id": 9748, "concept_version_id": 17233, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4122", "phenotype_version_id": 9340, "phenotype_name": "Benign neoplasm of colon, rectum, anus and anal canal", "code_attribute_header": [ "type" ], "codes": [ { "code": "D12", "description": "Benign neoplasm of colon, rectum, anus and anal canal", "attributes": { "type": "any" } }, { "code": "K62.0", "description": "Anal polyp", "attributes": { "type": "any" } }, { "code": "K62.1", "description": "Rectal polyp", "attributes": { "type": "any" } }, { "code": "K63.5", "description": "Polyp of colon", "attributes": { "type": "any" } } ] }, { "concept_id": 9749, "concept_version_id": 17234, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4122", "phenotype_version_id": 9340, "phenotype_name": "Benign neoplasm of colon, rectum, anus and anal canal", "code_attribute_header": [ "type" ], "codes": [ { "code": "D12", "description": "Benign neoplasm of colon, rectum, anus and anal canal", "attributes": { "type": "any" } }, { "code": "K62.0", "description": "Anal polyp", "attributes": { "type": "any" } }, { "code": "K62.1", "description": "Rectal polyp", "attributes": { "type": "any" } }, { "code": "K63.5", "description": "Polyp of colon", "attributes": { "type": "any" } } ] }, { "concept_id": 9750, "concept_version_id": 17235, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4122", "phenotype_version_id": 9340, "phenotype_name": "Benign neoplasm of colon, rectum, anus and anal canal", "code_attribute_header": [ "type" ], "codes": [ { "code": "771G400", "description": "Colonoscopic polypectomy", "attributes": { "type": "any" } }, { "code": "7722.11", "description": "Open operation on rectal polyp", "attributes": { "type": "any" } }, { "code": "7722.12", "description": "Open polypectomy of rectum", "attributes": { "type": "any" } }, { "code": "7726111.0", "description": "Peranal excision of rectal polyp", "attributes": { "type": "any" } }, { "code": "7726112.0", "description": "Peranal polypectomy of rectum", "attributes": { "type": "any" } }, { "code": "7726212.0", "description": "Peranal destruction of rectal polyp", "attributes": { "type": "any" } }, { "code": "7731200.0", "description": "Excision of anal polyp", "attributes": { "type": "any" } }, { "code": "B713.00", "description": "Benign neoplasm of colon", "attributes": { "type": "any" } }, { "code": "B713000", "description": "Benign neoplasm of hepatic flexure of colon", "attributes": { "type": "any" } }, { "code": "B713100", "description": "Benign neoplasm of transverse colon", "attributes": { "type": "any" } }, { "code": "B713.11", "description": "Colon polyp", "attributes": { "type": "any" } }, { "code": "B713200", "description": "Benign neoplasm of descending colon", "attributes": { "type": "any" } }, { "code": "B713300", "description": "Benign neoplasm of sigmoid colon", "attributes": { "type": "any" } }, { "code": "B713400", "description": "Benign neoplasm of caecum", "attributes": { "type": "any" } }, { "code": "B713500", "description": "Benign neoplasm of appendix", "attributes": { "type": "any" } }, { "code": "B713600", "description": "Benign neoplasm of ascending colon", "attributes": { "type": "any" } }, { "code": "B713700", "description": "Benign neoplasm of splenic flexure of colon", "attributes": { "type": "any" } }, { "code": "B713900", "description": "Benign neoplasm of ileocaecal valve", "attributes": { "type": "any" } }, { "code": "B713z00", "description": "Benign neoplasm of colon NOS", "attributes": { "type": "any" } }, { "code": "B714.00", "description": "Benign neoplasm of rectum and anal canal", "attributes": { "type": "any" } }, { "code": "B714000", "description": "Benign neoplasm of rectosigmoid junction", "attributes": { "type": "any" } }, { "code": "B714100", "description": "Benign neoplasm of rectum", "attributes": { "type": "any" } }, { "code": "B714111", "description": "Benign papilloma rectum", "attributes": { "type": "any" } }, { "code": "B714200", "description": "Benign neoplasm of anal canal", "attributes": { "type": "any" } }, { "code": "B714300", "description": "Benign neoplasm of anus NOS", "attributes": { "type": "any" } }, { "code": "B714z00", "description": "Benign neoplasm of rectum or anal canal NOS", "attributes": { "type": "any" } }, { "code": "J570.00", "description": "Anal and rectal polyp", "attributes": { "type": "any" } }, { "code": "J570000", "description": "Anal polyp", "attributes": { "type": "any" } }, { "code": "J570100", "description": "Rectal polyp", "attributes": { "type": "any" } }, { "code": "J570z00", "description": "Anal and rectal polyp NOS", "attributes": { "type": "any" } }, { "code": "J578.00", "description": "Colonic polyp", "attributes": { "type": "any" } }, { "code": "J578.11", "description": "Polyp of colon", "attributes": { "type": "any" } }, { "code": "X78o7", "description": "Benign neoplasm of ileocaecal valve", "attributes": { "type": "any" } }, { "code": "X78Oa", "description": "Colonic polyp", "attributes": { "type": "any" } }, { "code": "XaD2M", "description": "Colonoscopic polypectomy", "attributes": { "type": "any" } }, { "code": "XE0Dn", "description": "Peranal excision of lesion of rectum", "attributes": { "type": "any" } }, { "code": "XE0Do", "description": "Peranal destruction of lesion of rectum", "attributes": { "type": "any" } } ] }, { "concept_id": 9751, "concept_version_id": 17236, "concept_name": "Type of cancer: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4122", "phenotype_version_id": 9340, "phenotype_name": "Benign neoplasm of colon, rectum, anus and anal canal", "code_attribute_header": [ "type" ], "codes": [ { "code": "D12", "description": "Benign neoplasm of colon, rectum, anus and anal canal", "attributes": { "type": "any" } }, { "code": "K62.0", "description": "Anal polyp", "attributes": { "type": "any" } }, { "code": "K62.1", "description": "Rectal polyp", "attributes": { "type": "any" } }, { "code": "K63.5", "description": "Polyp of colon", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/28rz-ya23", "is_deleted": false, "publish_status": 2, "owner": "ieuan.scanlon", "template": { "id": 2, "name": "BHF Data Science Centre Phenotype", "description": "BHF Data Science Centre Phenotype definitions that describe a list of clinical codes, algorithms using clinical codes, or set of clinical trials. Visit the BHF Data Science Centre website to learn more: https://bhfdatasciencecentre.org", "version_id": 1 }, "versions": [ { "version_id": 9340, "version_name": "Benign neoplasm of colon, rectum, anus and anal canal", "version_date": "2026-06-08T20:06:56.683976Z", "is_published": true, "is_latest": true } ] } ]