[ { "phenotype_id": "PH4329", "phenotype_version_id": 9547, "name": "Rheumatoid Arthritis", "definition": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.\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": "2026-06-08T20:17:52.412536Z", "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": "2026-06-08T20:17:52.404548Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Rheumatoid arthritis (disorder)", "value": 611391 } ], "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": 11033, "concept_version_id": 18518, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4329", "phenotype_version_id": 9547, "phenotype_name": "Rheumatoid Arthritis", "code_attribute_header": [ "type" ], "codes": [ { "code": "1464", "description": "rheumatoid arthritis", "attributes": { "type": "any" } } ] }, { "concept_id": 11034, "concept_version_id": 18519, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4329", "phenotype_version_id": 9547, "phenotype_name": "Rheumatoid Arthritis", "code_attribute_header": [ "type" ], "codes": [ { "code": "J99.0", "description": "Rheumatoid lung disease", "attributes": { "type": "any" } }, { "code": "M05", "description": "Seropositive rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "M06", "description": "Other rheumatoid arthritis", "attributes": { "type": "any" } } ] }, { "concept_id": 11035, "concept_version_id": 18520, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4329", "phenotype_version_id": 9547, "phenotype_name": "Rheumatoid Arthritis", "code_attribute_header": [ "type" ], "codes": [ { "code": "J99.0", "description": "Rheumatoid lung disease", "attributes": { "type": "any" } }, { "code": "M05", "description": "Seropositive rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "M06", "description": "Other rheumatoid arthritis", "attributes": { "type": "any" } } ] }, { "concept_id": 11036, "concept_version_id": 18521, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4329", "phenotype_version_id": 9547, "phenotype_name": "Rheumatoid Arthritis", "code_attribute_header": [ "type" ], "codes": [ { "code": "J99.0", "description": "Rheumatoid lung disease", "attributes": { "type": "any" } }, { "code": "M05", "description": "Seropositive rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "M06", "description": "Other rheumatoid arthritis", "attributes": { "type": "any" } } ] }, { "concept_id": 11037, "concept_version_id": 18522, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4329", "phenotype_version_id": 9547, "phenotype_name": "Rheumatoid Arthritis", "code_attribute_header": [ "type" ], "codes": [ { "code": "J99.0", "description": "Rheumatoid lung disease", "attributes": { "type": "any" } }, { "code": "M05", "description": "Seropositive rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "M06", "description": "Other rheumatoid arthritis", "attributes": { "type": "any" } } ] }, { "concept_id": 11038, "concept_version_id": 18523, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4329", "phenotype_version_id": 9547, "phenotype_name": "Rheumatoid Arthritis", "code_attribute_header": [ "type" ], "codes": [ { "code": "14G1.00", "description": "H/O: rheumatoid arthritis", "attributes": { "type": "prevalent" } }, { "code": "2G25.00", "description": "O/E - hands - ulnar deviation", "attributes": { "type": "any" } }, { "code": "2G25.11", "description": "O/E - ulnar deviation", "attributes": { "type": "any" } }, { "code": "2G27.00", "description": "O/E-hands-rheumatoid spindling", "attributes": { "type": "any" } }, { "code": "66H..13", "description": "Rheumatoid arthrit. monitoring", "attributes": { "type": "prevalent" } }, { "code": "7P20300", "description": "Delivery of rehabilitation for rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "9mM..00", "description": "Rheumatoid arthritis monitoring invitation", "attributes": { "type": "prevalent" } }, { "code": "9mM0.00", "description": "Rheumatoid arthritis monitoring invitation first letter", "attributes": { "type": "prevalent" } }, { "code": "9mM1.00", "description": "Rheumatoid arthritis monitoring invitation second letter", "attributes": { "type": "prevalent" } }, { "code": "9mM2.00", "description": "Rheumatoid arthritis monitoring invitation third letter", "attributes": { "type": "prevalent" } }, { "code": "9mM3.00", "description": "Rheumatoid arthritis monitoring verbal invitation", "attributes": { "type": "prevalent" } }, { "code": "9mM4.00", "description": "Rheumatoid arthritis monitoring telephone invitation", "attributes": { "type": "prevalent" } }, { "code": "F371200", "description": "Polyneuropathy in rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "F396400", "description": "Myopathy due to rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "G5y8.00", "description": "Rheumatoid myocarditis", "attributes": { "type": "any" } }, { "code": "G5yA.00", "description": "Rheumatoid carditis", "attributes": { "type": "any" } }, { "code": "H570.00", "description": "Rheumatoid lung", "attributes": { "type": "any" } }, { "code": "N005.00", "description": "Adult Still's Disease", "attributes": { "type": "any" } }, { "code": "N04..00", "description": "Rheumatoid arthritis and other inflammatory polyarthropathy", "attributes": { "type": "any" } }, { "code": "N040.00", "description": "Rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "N040000", "description": "Rheumatoid arthritis of cervical spine", "attributes": { "type": "any" } }, { "code": "N040100", "description": "Other rheumatoid arthritis of spine", "attributes": { "type": "any" } }, { "code": "N040200", "description": "Rheumatoid arthritis of shoulder", "attributes": { "type": "any" } }, { "code": "N040300", "description": "Rheumatoid arthritis of sternoclavicular joint", "attributes": { "type": "any" } }, { "code": "N040400", "description": "Rheumatoid arthritis of acromioclavicular joint", "attributes": { "type": "any" } }, { "code": "N040500", "description": "Rheumatoid arthritis of elbow", "attributes": { "type": "any" } }, { "code": "N040600", "description": "Rheumatoid arthritis of distal radio-ulnar joint", "attributes": { "type": "any" } }, { "code": "N040700", "description": "Rheumatoid arthritis of wrist", "attributes": { "type": "any" } }, { "code": "N040800", "description": "Rheumatoid arthritis of MCP joint", "attributes": { "type": "any" } }, { "code": "N040900", "description": "Rheumatoid arthritis of PIP joint of finger", "attributes": { "type": "any" } }, { "code": "N040A00", "description": "Rheumatoid arthritis of DIP joint of finger", "attributes": { "type": "any" } }, { "code": "N040B00", "description": "Rheumatoid arthritis of hip", "attributes": { "type": "any" } }, { "code": "N040C00", "description": "Rheumatoid arthritis of sacro-iliac joint", "attributes": { "type": "any" } }, { "code": "N040D00", "description": "Rheumatoid arthritis of knee", "attributes": { "type": "any" } }, { "code": "N040E00", "description": "Rheumatoid arthritis of tibio-fibular joint", "attributes": { "type": "any" } }, { "code": "N040F00", "description": "Rheumatoid arthritis of ankle", "attributes": { "type": "any" } }, { "code": "N040G00", "description": "Rheumatoid arthritis of subtalar joint", "attributes": { "type": "any" } }, { "code": "N040H00", "description": "Rheumatoid arthritis of talonavicular joint", "attributes": { "type": "any" } }, { "code": "N040J00", "description": "Rheumatoid arthritis of other tarsal joint", "attributes": { "type": "any" } }, { "code": "N040K00", "description": "Rheumatoid arthritis of 1st MTP joint", "attributes": { "type": "any" } }, { "code": "N040L00", "description": "Rheumatoid arthritis of lesser MTP joint", "attributes": { "type": "any" } }, { "code": "N040M00", "description": "Rheumatoid arthritis of IP joint of toe", "attributes": { "type": "any" } }, { "code": "N040N00", "description": "Rheumatoid vasculitis", "attributes": { "type": "any" } }, { "code": "N040P00", "description": "Seronegative rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "N040Q00", "description": "Rheumatoid bursitis", "attributes": { "type": "any" } }, { "code": "N040R00", "description": "Rheumatoid nodule", "attributes": { "type": "any" } }, { "code": "N040S00", "description": "Rheumatoid arthritis - multiple joint", "attributes": { "type": "any" } }, { "code": "N040T00", "description": "Flare of rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "N041.00", "description": "Felty's syndrome", "attributes": { "type": "any" } }, { "code": "N042.00", "description": "Other rheumatoid arthropathy + visceral/systemic involvement", "attributes": { "type": "any" } }, { "code": "N0421", "description": "Rheumatoid lung", "attributes": { "type": "any" } }, { "code": "N042100", "description": "Rheumatoid lung disease", "attributes": { "type": "any" } }, { "code": "N0422", "description": "Rheumatoid nodule", "attributes": { "type": "any" } }, { "code": "N042200", "description": "Rheumatoid nodule", "attributes": { "type": "any" } }, { "code": "N042z00", "description": "Rheumatoid arthropathy + visceral/systemic involvement NOS", "attributes": { "type": "any" } }, { "code": "N047.00", "description": "Seropositive errosive rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "N04X.00", "description": "Seropositive rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "N04y000", "description": "Rheumatoid lung", "attributes": { "type": "any" } }, { "code": "N04y011", "description": "Caplan's syndrome", "attributes": { "type": "any" } }, { "code": "N04y012", "description": "Fibrosing alveolitis associated with rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "N04y200", "description": "Adult-onset Still's disease", "attributes": { "type": "any" } }, { "code": "N362200", "description": "Swan-neck finger deformity", "attributes": { "type": "any" } }, { "code": "Nyu1000", "description": "[X]Rheumatoid arthritis+involvement/other organs or systems", "attributes": { "type": "any" } }, { "code": "Nyu1100", "description": "[X]Other seropositive rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "Nyu1200", "description": "[X]Other specified rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "Nyu1G00", "description": "[X]Seropositive rheumatoid arthritis unspecified", "attributes": { "type": "any" } }, { "code": "X701i", "description": "Seronegative rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "X701l", "description": "Rheumatoid vasculitis", "attributes": { "type": "any" } }, { "code": "Xa3gL", "description": "Rheumatoid arthritis - multiple joint", "attributes": { "type": "any" } }, { "code": "XaaWt", "description": "Rheumatoid arthritis monitoring invitation first letter", "attributes": { "type": "prevalent" } }, { "code": "XaaWu", "description": "Rheumatoid arthritis monitoring invitation second letter", "attributes": { "type": "prevalent" } }, { "code": "XaaWv", "description": "Rheumatoid arthritis monitoring invitation third letter", "attributes": { "type": "prevalent" } }, { "code": "XaaWw", "description": "Rheumatoid arthritis monitoring verbal invitation", "attributes": { "type": "prevalent" } }, { "code": "XaaWW", "description": "Rheumatoid arthritis monitoring invitation", "attributes": { "type": "prevalent" } }, { "code": "XaaWx", "description": "Rheumatoid arthritis monitoring telephone invitation", "attributes": { "type": "prevalent" } }, { "code": "XaBMO", "description": "Seropositive errosive rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "XaLsj", "description": "Delivery of rehabilitation for rheumatoid arthritis", "attributes": { "type": "any" } }, { "code": "XE1DU", "description": "Rheumatoid arthritis and other inflammatory polyarthropathies", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/3571-fv79", "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": 9547, "version_name": "Rheumatoid Arthritis", "version_date": "2026-06-08T20:17:52.424971Z", "is_published": true, "is_latest": true } ] } ]