[ { "phenotype_id": "PH4164", "phenotype_version_id": 9382, "name": "Diverticular disease of intestine (acute and chronic)", "definition": "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.\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": "2026-06-08T20:09:11.406326Z", "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": "2026-06-08T20:09:11.397114Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Diverticular disease (disorder)", "value": 90404 } ], "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 }, { "name": "OPCS4 codes", "value": 7 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 10024, "concept_version_id": 17509, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4164", "phenotype_version_id": 9382, "phenotype_name": "Diverticular disease of intestine (acute and chronic)", "code_attribute_header": [ "type" ], "codes": [ { "code": "1458", "description": "diverticular disease/diverticulitis", "attributes": { "type": "any" } } ] }, { "concept_id": 10025, "concept_version_id": 17510, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4164", "phenotype_version_id": 9382, "phenotype_name": "Diverticular disease of intestine (acute and chronic)", "code_attribute_header": [ "type" ], "codes": [ { "code": "K38.2", "description": "Diverticulum of appendix", "attributes": { "type": "any" } }, { "code": "K57", "description": "Diverticular disease of intestine", "attributes": { "type": "any" } } ] }, { "concept_id": 10026, "concept_version_id": 17511, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4164", "phenotype_version_id": 9382, "phenotype_name": "Diverticular disease of intestine (acute and chronic)", "code_attribute_header": [ "type" ], "codes": [ { "code": "K38.2", "description": "Diverticulum of appendix", "attributes": { "type": "any" } }, { "code": "K57", "description": "Diverticular disease of intestine", "attributes": { "type": "any" } } ] }, { "concept_id": 10027, "concept_version_id": 17512, "concept_name": "Operative procedures - main OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4164", "phenotype_version_id": 9382, "phenotype_name": "Diverticular disease of intestine (acute and chronic)", "code_attribute_header": [ "type" ], "codes": [ { "code": "H12.1", "description": "Excision of diverticulum of colon", "attributes": { "type": "any" } } ] }, { "concept_id": 10028, "concept_version_id": 17513, "concept_name": "Operative procedures - secondary OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4164", "phenotype_version_id": 9382, "phenotype_name": "Diverticular disease of intestine (acute and chronic)", "code_attribute_header": [ "type" ], "codes": [ { "code": "H12.1", "description": "H12.1", "attributes": { "type": "any" } } ] }, { "concept_id": 10029, "concept_version_id": 17514, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4164", "phenotype_version_id": 9382, "phenotype_name": "Diverticular disease of intestine (acute and chronic)", "code_attribute_header": [ "type" ], "codes": [ { "code": "K38.2", "description": "Diverticulum of appendix", "attributes": { "type": "any" } }, { "code": "K57", "description": "Diverticular disease of intestine", "attributes": { "type": "any" } } ] }, { "concept_id": 10030, "concept_version_id": 17515, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4164", "phenotype_version_id": 9382, "phenotype_name": "Diverticular disease of intestine (acute and chronic)", "code_attribute_header": [ "type" ], "codes": [ { "code": "K38.2", "description": "Diverticulum of appendix", "attributes": { "type": "any" } }, { "code": "K57", "description": "Diverticular disease of intestine", "attributes": { "type": "any" } } ] }, { "concept_id": 10031, "concept_version_id": 17516, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4164", "phenotype_version_id": 9382, "phenotype_name": "Diverticular disease of intestine (acute and chronic)", "code_attribute_header": [ "type" ], "codes": [ { "code": "7718000.0", "description": "Excision of diverticulum of colon", "attributes": { "type": "any" } }, { "code": "J23z300", "description": "Appendicular diverticulum", "attributes": { "type": "any" } }, { "code": "J51..00", "description": "Diverticula of intestine", "attributes": { "type": "any" } }, { "code": "J510.00", "description": "Diverticulosis", "attributes": { "type": "any" } }, { "code": "J510000", "description": "Diverticulosis of the duodenum", "attributes": { "type": "any" } }, { "code": "J510100", "description": "Diverticulosis of the jejunum", "attributes": { "type": "any" } }, { "code": "J510200", "description": "Diverticulosis of the ileum", "attributes": { "type": "any" } }, { "code": "J510300", "description": "Diverticulosis of the small intestine unspecified", "attributes": { "type": "any" } }, { "code": "J510400", "description": "Diverticulosis of the small intestine NOS", "attributes": { "type": "any" } }, { "code": "J510500", "description": "Diverticulosis of the colon", "attributes": { "type": "any" } }, { "code": "J510600", "description": "Diverticulosis of the large intestine unspecified", "attributes": { "type": "any" } }, { "code": "J510700", "description": "Diverticulosis of the large intestine NOS", "attributes": { "type": "any" } }, { "code": "J510800", "description": "Divertic dis/both sml+lge intestin without perfor or abscess", "attributes": { "type": "any" } }, { "code": "J510900", "description": "Bleeding diverticulosis", "attributes": { "type": "any" } }, { "code": "J510y00", "description": "Diverticulosis unspecified", "attributes": { "type": "any" } }, { "code": "J510z00", "description": "Diverticulosis NOS", "attributes": { "type": "any" } }, { "code": "J511.00", "description": "Diverticulitis", "attributes": { "type": "any" } }, { "code": "J511000", "description": "Diverticulitis of the duodenum", "attributes": { "type": "any" } }, { "code": "J51..11", "description": "Diverticular disease", "attributes": { "type": "any" } }, { "code": "J511100", "description": "Diverticulitis of the jejunum", "attributes": { "type": "any" } }, { "code": "J511200", "description": "Diverticulitis of the ileum", "attributes": { "type": "any" } }, { "code": "J511300", "description": "Diverticulitis of the small intestine unspecified", "attributes": { "type": "any" } }, { "code": "J511400", "description": "Diverticulitis of the small intestine NOS", "attributes": { "type": "any" } }, { "code": "J511500", "description": "Diverticulitis of the colon", "attributes": { "type": "any" } }, { "code": "J511600", "description": "Diverticulitis of the large intestine unspecified", "attributes": { "type": "any" } }, { "code": "J511700", "description": "Diverticulitis of the large intestine NOS", "attributes": { "type": "any" } }, { "code": "J511y00", "description": "Diverticulitis unspecified", "attributes": { "type": "any" } }, { "code": "J511z00", "description": "Diverticulitis NOS", "attributes": { "type": "any" } }, { "code": "J512.00", "description": "Perforated diverticulum", "attributes": { "type": "any" } }, { "code": "J512000", "description": "Perforated diverticulum of duodenum", "attributes": { "type": "any" } }, { "code": "J512100", "description": "Perforated diverticulum of jejunum", "attributes": { "type": "any" } }, { "code": "J512200", "description": "Perforated diverticulum of ileum", "attributes": { "type": "any" } }, { "code": "J512300", "description": "Perforated diverticulum of small intestine unspecified", "attributes": { "type": "any" } }, { "code": "J512400", "description": "Perforated diverticulum of small intestine NOS", "attributes": { "type": "any" } }, { "code": "J512500", "description": "Perforated diverticulum of colon", "attributes": { "type": "any" } }, { "code": "J512600", "description": "Perforated diverticulum of large intestine unspecified", "attributes": { "type": "any" } }, { "code": "J512700", "description": "Perforated diverticulum of large intestine NOS", "attributes": { "type": "any" } }, { "code": "J512800", "description": "Divertic disease/both sml+lge intestin with perforat+abscess", "attributes": { "type": "any" } }, { "code": "J512y00", "description": "Perforated diverticulum unspecified", "attributes": { "type": "any" } }, { "code": "J512z00", "description": "Perforated diverticulum of intestine NOS", "attributes": { "type": "any" } }, { "code": "J513.00", "description": "Diverticular abscess", "attributes": { "type": "any" } }, { "code": "J51z.00", "description": "Diverticula of the intestine NOS", "attributes": { "type": "any" } }, { "code": "XaB8Z", "description": "Diverticulitis", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/0nxh-v305", "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": 9382, "version_name": "Diverticular disease of intestine (acute and chronic)", "version_date": "2026-06-08T20:09:11.417444Z", "is_published": true, "is_latest": true } ] } ]