[ { "phenotype_id": "PH4191", "phenotype_version_id": 9409, "name": "Gastro-oesophageal reflux disease", "definition": "A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus.\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": "2026-06-08T20:10:37.036399Z", "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": "2026-06-08T20:10:37.031224Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Gastroesophageal reflux disease (disorder)", "value": 512722 } ], "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": 10194, "concept_version_id": 17679, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4191", "phenotype_version_id": 9409, "phenotype_name": "Gastro-oesophageal reflux disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "1138", "description": "gastro-oesophageal reflux (gord) / gastric reflux", "attributes": { "type": "any" } } ] }, { "concept_id": 10195, "concept_version_id": 17680, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4191", "phenotype_version_id": 9409, "phenotype_name": "Gastro-oesophageal reflux disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "K21", "description": "Gastro-oesophageal reflux disease", "attributes": { "type": "any" } } ] }, { "concept_id": 10196, "concept_version_id": 17681, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4191", "phenotype_version_id": 9409, "phenotype_name": "Gastro-oesophageal reflux disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "K21", "description": "Gastro-oesophageal reflux disease", "attributes": { "type": "any" } } ] }, { "concept_id": 10197, "concept_version_id": 17682, "concept_name": "Operative procedures - main OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4191", "phenotype_version_id": 9409, "phenotype_name": "Gastro-oesophageal reflux disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "G24", "description": "Antireflux operations", "attributes": { "type": "any" } }, { "code": "G24.1", "description": "Antireflux fundoplication using thoracic approach", "attributes": { "type": "any" } }, { "code": "G24.2", "description": "Antireflux operation using thoracic approach NEC", "attributes": { "type": "any" } }, { "code": "G24.3", "description": "Antireflux fundoplication using abdominal approach", "attributes": { "type": "any" } }, { "code": "G24.4", "description": "Antireflux gastropexy", "attributes": { "type": "any" } }, { "code": "G24.5", "description": "Gastroplasty and antireflux procedure HFQ", "attributes": { "type": "any" } }, { "code": "G24.6", "description": "Insertion of Angelchick prosthesis", "attributes": { "type": "any" } }, { "code": "G24.8", "description": "Other specified antireflux operations", "attributes": { "type": "any" } }, { "code": "G24.9", "description": "Unspecified antireflux operations", "attributes": { "type": "any" } }, { "code": "G25", "description": "Revision of antireflux operations", "attributes": { "type": "any" } }, { "code": "G25.1", "description": "Revision of fundoplication of stomach", "attributes": { "type": "any" } }, { "code": "G25.2", "description": "Adjustment to Angelchick prosthesis", "attributes": { "type": "any" } }, { "code": "G25.3", "description": "Removal of Angelchick prosthesis", "attributes": { "type": "any" } }, { "code": "G25.8", "description": "Other specified revision of antireflux operations", "attributes": { "type": "any" } }, { "code": "G25.9", "description": "Unspecified revision of antireflux operations", "attributes": { "type": "any" } } ] }, { "concept_id": 10198, "concept_version_id": 17683, "concept_name": "Operative procedures - secondary OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4191", "phenotype_version_id": 9409, "phenotype_name": "Gastro-oesophageal reflux disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "G24", "description": "G24", "attributes": { "type": "any" } }, { "code": "G24.1", "description": "G24.1", "attributes": { "type": "any" } }, { "code": "G24.2", "description": "G24.2", "attributes": { "type": "any" } }, { "code": "G24.3", "description": "G24.3", "attributes": { "type": "any" } }, { "code": "G24.4", "description": "G24.4", "attributes": { "type": "any" } }, { "code": "G24.5", "description": "G24.5", "attributes": { "type": "any" } }, { "code": "G24.6", "description": "G24.6", "attributes": { "type": "any" } }, { "code": "G24.8", "description": "G24.8", "attributes": { "type": "any" } }, { "code": "G24.9", "description": "G24.9", "attributes": { "type": "any" } }, { "code": "G25", "description": "G25", "attributes": { "type": "any" } }, { "code": "G25.1", "description": "G25.1", "attributes": { "type": "any" } }, { "code": "G25.2", "description": "G25.2", "attributes": { "type": "any" } }, { "code": "G25.3", "description": "G25.3", "attributes": { "type": "any" } }, { "code": "G25.8", "description": "G25.8", "attributes": { "type": "any" } }, { "code": "G25.9", "description": "G25.9", "attributes": { "type": "any" } } ] }, { "concept_id": 10199, "concept_version_id": 17684, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4191", "phenotype_version_id": 9409, "phenotype_name": "Gastro-oesophageal reflux disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "K21", "description": "Gastro-oesophageal reflux disease", "attributes": { "type": "any" } } ] }, { "concept_id": 10200, "concept_version_id": 17685, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4191", "phenotype_version_id": 9409, "phenotype_name": "Gastro-oesophageal reflux disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "K21", "description": "Gastro-oesophageal reflux disease", "attributes": { "type": "any" } } ] }, { "concept_id": 10201, "concept_version_id": 17686, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4191", "phenotype_version_id": 9409, "phenotype_name": "Gastro-oesophageal reflux disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "171J.00", "description": "Reflux cough", "attributes": { "type": "any" } }, { "code": "1957.00", "description": "Gastric reflux", "attributes": { "type": "any" } }, { "code": "760L.00", "description": "Antireflux operations", "attributes": { "type": "any" } }, { "code": "760L000", "description": "Antireflux fundoplication using thoracic approach", "attributes": { "type": "any" } }, { "code": "760L100", "description": "Antireflux operation using thoracic approach NEC", "attributes": { "type": "any" } }, { "code": "760L.11", "description": "Oesophageal reflux operations", "attributes": { "type": "any" } }, { "code": "760L111", "description": "Antireflux procedure using thoracic approach NEC", "attributes": { "type": "any" } }, { "code": "760L200", "description": "Antireflux fundoplication using abdominal approach", "attributes": { "type": "any" } }, { "code": "760L300", "description": "Antireflux gastropexy", "attributes": { "type": "any" } }, { "code": "760L311", "description": "Antireflux gastroplasty", "attributes": { "type": "any" } }, { "code": "760L400", "description": "Antireflux procedure and gastroplasty HFQ", "attributes": { "type": "any" } }, { "code": "760Ly00", "description": "Other specified antireflux operation", "attributes": { "type": "any" } }, { "code": "760Lz00", "description": "Antireflux operation NOS", "attributes": { "type": "any" } }, { "code": "760M.00", "description": "Revision of antireflux operations", "attributes": { "type": "any" } }, { "code": "760Mz00", "description": "Revision of antireflux operation NOS", "attributes": { "type": "any" } }, { "code": "J101100", "description": "Reflux oesophagitis", "attributes": { "type": "any" } }, { "code": "J101111", "description": "Acid reflux", "attributes": { "type": "any" } }, { "code": "J101112", "description": "Gastro-oesophageal reflux with oesophagitis", "attributes": { "type": "any" } }, { "code": "J101113", "description": "Oesophageal reflux with oesophagitis", "attributes": { "type": "any" } }, { "code": "J10y400", "description": "Oesopheal reflux without mention of oesophagitis", "attributes": { "type": "any" } }, { "code": "J10y411", "description": "Oesophageal reflux", "attributes": { "type": "any" } }, { "code": "J10y412", "description": "Gastro-oesophageal reflux", "attributes": { "type": "any" } }, { "code": "J10y413", "description": "Acid reflux", "attributes": { "type": "any" } }, { "code": "J10y500", "description": "Laryngopharyngeal reflux", "attributes": { "type": "any" } }, { "code": "XaK99", "description": "Laryngopharyngeal reflux", "attributes": { "type": "any" } }, { "code": "XaLCS", "description": "Reflux cough", "attributes": { "type": "any" } }, { "code": "XE0Ca", "description": "Antireflux fundoplication using abdominal approach", "attributes": { "type": "any" } }, { "code": "XE0Cb", "description": "Antireflux gastropexy", "attributes": { "type": "any" } }, { "code": "XE0CZ", "description": "Antireflux fundoplication using thoracic approach", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/nxfj-xk90", "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": 9409, "version_name": "Gastro-oesophageal reflux disease", "version_date": "2026-06-08T20:10:37.047942Z", "is_published": true, "is_latest": true } ] } ]