[ { "phenotype_id": "PH4146", "phenotype_version_id": 9364, "name": "Coeliac disease", "definition": "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract.\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": "2026-06-08T20:08:09.073480Z", "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": "2026-06-08T20:08:09.066665Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Celiac disease (disorder)", "value": 226981 } ], "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": "ICD10 codes", "value": 4 }, { "name": "UKBioBank codes", "value": 12 }, { "name": "Non-standard codes", "value": 13 }, { "name": "Read codes v3", "value": 6 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 9904, "concept_version_id": 17389, "concept_name": "Diagnosed with coeliac disease or gluten sensitivity", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4146", "phenotype_version_id": 9364, "phenotype_name": "Coeliac disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "1", "description": "yes", "attributes": { "type": "any" } } ] }, { "concept_id": 9905, "concept_version_id": 17390, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4146", "phenotype_version_id": 9364, "phenotype_name": "Coeliac disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "1456", "description": "malabsorption/coeliac disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9906, "concept_version_id": 17391, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4146", "phenotype_version_id": 9364, "phenotype_name": "Coeliac disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "K90.0", "description": "Coeliac disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9907, "concept_version_id": 17392, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4146", "phenotype_version_id": 9364, "phenotype_name": "Coeliac disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "K90.0", "description": "Coeliac disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9908, "concept_version_id": 17393, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4146", "phenotype_version_id": 9364, "phenotype_name": "Coeliac disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "K90.0", "description": "Coeliac disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9909, "concept_version_id": 17394, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4146", "phenotype_version_id": 9364, "phenotype_name": "Coeliac disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "K90.0", "description": "Coeliac disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9910, "concept_version_id": 17395, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4146", "phenotype_version_id": 9364, "phenotype_name": "Coeliac disease", "code_attribute_header": [ "type" ], "codes": [ { "code": "6648.00", "description": "Coeliac disease monitoring", "attributes": { "type": "prevalent" } }, { "code": "6648000.0", "description": "Coeliac disease annual review", "attributes": { "type": "prevalent" } }, { "code": "8IAp.00", "description": "Coeliac disease annual review declined", "attributes": { "type": "prevalent" } }, { "code": "9mB..00", "description": "Coeliac disease monitoring invitation", "attributes": { "type": "prevalent" } }, { "code": "9mB1.00", "description": "Coeliac disease monitoring invitation first letter", "attributes": { "type": "prevalent" } }, { "code": "J690.00", "description": "Coeliac disease", "attributes": { "type": "any" } }, { "code": "J690000", "description": "Congenital coeliac disease", "attributes": { "type": "any" } }, { "code": "J690100", "description": "Acquired coeliac disease", "attributes": { "type": "any" } }, { "code": "J690.11", "description": "Coeliac rickets", "attributes": { "type": "any" } }, { "code": "J690.12", "description": "Gee - Herter disease", "attributes": { "type": "any" } }, { "code": "J690.13", "description": "Gluten enteropathy", "attributes": { "type": "any" } }, { "code": "J690.14", "description": "Sprue - nontropical", "attributes": { "type": "any" } }, { "code": "J690.15", "description": "Steatorrhea - idiopathic", "attributes": { "type": "any" } }, { "code": "J690z00", "description": "Coeliac disease NOS", "attributes": { "type": "any" } }, { "code": "XaX0R", "description": "Coeliac disease monitoring invitation", "attributes": { "type": "prevalent" } }, { "code": "XaX0T", "description": "Coeliac disease annual review declined", "attributes": { "type": "prevalent" } }, { "code": "XaX1x", "description": "Coeliac disease monitoring invitation first letter", "attributes": { "type": "prevalent" } }, { "code": "XaXGm", "description": "Coeliac disease annual review", "attributes": { "type": "prevalent" } }, { "code": "XE0bK", "description": "Coeliac disease", "attributes": { "type": "any" } }, { "code": "ZC2C200", "description": "Dietary advice for coeliac disease", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/19ay-9287", "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": 9364, "version_name": "Coeliac disease", "version_date": "2026-06-08T20:08:09.086546Z", "is_published": true, "is_latest": true } ] } ]