[ { "phenotype_id": "PH4330", "phenotype_version_id": 9548, "name": "Rheumatic fever", "definition": "A febrile disease occurring as a delayed sequela of infections with streptococcus pyogenes. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, joints, and brain, and by the presence of Aschoff bodies in the myocardium and skin.\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": "2026-06-08T20:17:55.613469Z", "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": "2026-06-08T20:17:55.607189Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Rheumatic fever (disorder)", "value": 299005 } ], "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": 11039, "concept_version_id": 18524, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4330", "phenotype_version_id": 9548, "phenotype_name": "Rheumatic fever", "code_attribute_header": [ "type" ], "codes": [ { "code": "1479", "description": "rheumatic fever", "attributes": { "type": "any" } } ] }, { "concept_id": 11040, "concept_version_id": 18525, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4330", "phenotype_version_id": 9548, "phenotype_name": "Rheumatic fever", "code_attribute_header": [ "type" ], "codes": [ { "code": "I00", "description": "Rheumatic fever without mention of heart involvement", "attributes": { "type": "any" } }, { "code": "I01", "description": "Rheumatic fever with heart involvement", "attributes": { "type": "any" } }, { "code": "I02", "description": "Rheumatic chorea", "attributes": { "type": "any" } }, { "code": "I05", "description": "Rheumatic mitral valve diseases", "attributes": { "type": "any" } }, { "code": "I06", "description": "Rheumatic aortic valve diseases", "attributes": { "type": "any" } }, { "code": "I07", "description": "Rheumatic tricuspid valve diseases", "attributes": { "type": "any" } }, { "code": "I09", "description": "Other rheumatic heart diseases", "attributes": { "type": "any" } } ] }, { "concept_id": 11041, "concept_version_id": 18526, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4330", "phenotype_version_id": 9548, "phenotype_name": "Rheumatic fever", "code_attribute_header": [ "type" ], "codes": [ { "code": "I00", "description": "Rheumatic fever without mention of heart involvement", "attributes": { "type": "any" } }, { "code": "I01", "description": "Rheumatic fever with heart involvement", "attributes": { "type": "any" } }, { "code": "I02", "description": "Rheumatic chorea", "attributes": { "type": "any" } }, { "code": "I05", "description": "Rheumatic mitral valve diseases", "attributes": { "type": "any" } }, { "code": "I06", "description": "Rheumatic aortic valve diseases", "attributes": { "type": "any" } }, { "code": "I07", "description": "Rheumatic tricuspid valve diseases", "attributes": { "type": "any" } }, { "code": "I09", "description": "Other rheumatic heart diseases", "attributes": { "type": "any" } } ] }, { "concept_id": 11042, "concept_version_id": 18527, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4330", "phenotype_version_id": 9548, "phenotype_name": "Rheumatic fever", "code_attribute_header": [ "type" ], "codes": [ { "code": "I00", "description": "Rheumatic fever without mention of heart involvement", "attributes": { "type": "any" } }, { "code": "I01", "description": "Rheumatic fever with heart involvement", "attributes": { "type": "any" } }, { "code": "I02", "description": "Rheumatic chorea", "attributes": { "type": "any" } }, { "code": "I05", "description": "Rheumatic mitral valve diseases", "attributes": { "type": "any" } }, { "code": "I06", "description": "Rheumatic aortic valve diseases", "attributes": { "type": "any" } }, { "code": "I07", "description": "Rheumatic tricuspid valve diseases", "attributes": { "type": "any" } }, { "code": "I09", "description": "Other rheumatic heart diseases", "attributes": { "type": "any" } } ] }, { "concept_id": 11043, "concept_version_id": 18528, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4330", "phenotype_version_id": 9548, "phenotype_name": "Rheumatic fever", "code_attribute_header": [ "type" ], "codes": [ { "code": "I00", "description": "Rheumatic fever without mention of heart involvement", "attributes": { "type": "any" } }, { "code": "I01", "description": "Rheumatic fever with heart involvement", "attributes": { "type": "any" } }, { "code": "I02", "description": "Rheumatic chorea", "attributes": { "type": "any" } }, { "code": "I05", "description": "Rheumatic mitral valve diseases", "attributes": { "type": "any" } }, { "code": "I06", "description": "Rheumatic aortic valve diseases", "attributes": { "type": "any" } }, { "code": "I07", "description": "Rheumatic tricuspid valve diseases", "attributes": { "type": "any" } }, { "code": "I09", "description": "Other rheumatic heart diseases", "attributes": { "type": "any" } } ] }, { "concept_id": 11044, "concept_version_id": 18529, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4330", "phenotype_version_id": 9548, "phenotype_name": "Rheumatic fever", "code_attribute_header": [ "type" ], "codes": [ { "code": "14A1.00", "description": "H/O: rheumatic fever", "attributes": { "type": "prevalent" } }, { "code": "G0...00", "description": "Acute rheumatic fever", "attributes": { "type": "any" } }, { "code": "G00..00", "description": "Rheumatic fever without heart involvement", "attributes": { "type": "any" } }, { "code": "G01..00", "description": "Rheumatic fever with heart involvement", "attributes": { "type": "any" } }, { "code": "G010.00", "description": "Acute rheumatic pericarditis", "attributes": { "type": "any" } }, { "code": "G011.00", "description": "Acute rheumatic endocarditis", "attributes": { "type": "any" } }, { "code": "G012.00", "description": "Acute rheumatic myocarditis", "attributes": { "type": "any" } }, { "code": "G01y.00", "description": "Other acute rheumatic heart disease", "attributes": { "type": "any" } }, { "code": "G01y000", "description": "Acute rheumatic pancarditis", "attributes": { "type": "any" } }, { "code": "G01yz00", "description": "Other acute rheumatic heart disease NOS", "attributes": { "type": "any" } }, { "code": "G01z.00", "description": "Acute rheumatic heart disease NOS", "attributes": { "type": "any" } }, { "code": "G02..00", "description": "Rheumatic chorea", "attributes": { "type": "any" } }, { "code": "G020.00", "description": "Rheumatic chorea with heart involvement", "attributes": { "type": "any" } }, { "code": "G021.00", "description": "Rheumatic chorea without mention of heart involvement", "attributes": { "type": "any" } }, { "code": "G02..11", "description": "Sydenham's chorea", "attributes": { "type": "any" } }, { "code": "G02z.00", "description": "Rheumatic chorea NOS", "attributes": { "type": "any" } }, { "code": "G0y..00", "description": "Other specified acute rheumatic fever", "attributes": { "type": "any" } }, { "code": "G0z..00", "description": "Acute rheumatic fever NOS", "attributes": { "type": "any" } }, { "code": "G1...00", "description": "Chronic rheumatic heart disease", "attributes": { "type": "any" } }, { "code": "G10..00", "description": "Chronic rheumatic pericarditis", "attributes": { "type": "any" } }, { "code": "G100.00", "description": "Adherent rheumatic pericardium", "attributes": { "type": "any" } }, { "code": "G102.00", "description": "Chronic rheumatic myopericarditis", "attributes": { "type": "any" } }, { "code": "G110.11", "description": "Rheumatic mitral stenosis", "attributes": { "type": "any" } }, { "code": "G111.00", "description": "Rheumatic mitral insufficiency", "attributes": { "type": "any" } }, { "code": "G11..11", "description": "Rheumatic mitral valve disease", "attributes": { "type": "any" } }, { "code": "G111.11", "description": "Mitral incompetence - rheumatic", "attributes": { "type": "any" } }, { "code": "G111.12", "description": "Mitral regurgitation - rheumatic", "attributes": { "type": "any" } }, { "code": "G12..00", "description": "Rheumatic aortic valve disease", "attributes": { "type": "any" } }, { "code": "G120.00", "description": "Rheumatic aortic stenosis", "attributes": { "type": "any" } }, { "code": "G121.00", "description": "Rheumatic aortic insufficiency", "attributes": { "type": "any" } }, { "code": "G121.11", "description": "Aortic incompetence - rheumatic", "attributes": { "type": "any" } }, { "code": "G121.12", "description": "Aortic regurgitation - rheumatic", "attributes": { "type": "any" } }, { "code": "G122.00", "description": "Rheumatic aortic stenosis with insufficiency", "attributes": { "type": "any" } }, { "code": "G12z.00", "description": "Rheumatic aortic valve disease NOS", "attributes": { "type": "any" } }, { "code": "G14..00", "description": "Other chronic rheumatic endocardial disease", "attributes": { "type": "any" } }, { "code": "G140000", "description": "Rheumatic tricuspid stenosis", "attributes": { "type": "any" } }, { "code": "G140100", "description": "Rheumatic tricuspid insufficiency", "attributes": { "type": "any" } }, { "code": "G140111", "description": "Tricuspid regurgitation - rheumatic", "attributes": { "type": "any" } }, { "code": "G140112", "description": "Tricuspid incompetence - rheumatic", "attributes": { "type": "any" } }, { "code": "G140200", "description": "Rheumatic tricuspid stenosis and insufficiency", "attributes": { "type": "any" } }, { "code": "G14021X", "description": "Rheumatic tricuspid stenosis and regurgitation", "attributes": { "type": "any" } }, { "code": "G14021Y", "description": "Rheumatic tricuspid stenosis and incompetence", "attributes": { "type": "any" } }, { "code": "G140z00", "description": "Rheumatic tricuspid valve disease NOS", "attributes": { "type": "any" } }, { "code": "G141.00", "description": "Rheumatic pulmonary valve disease", "attributes": { "type": "any" } }, { "code": "G141000", "description": "Rheumatic pulmonary stenosis", "attributes": { "type": "any" } }, { "code": "G141100", "description": "Rheumatic pulmonary insufficiency", "attributes": { "type": "any" } }, { "code": "G141200", "description": "Rheumatic pulmonary stenosis and insufficiency", "attributes": { "type": "any" } }, { "code": "G141z00", "description": "Rheumatic pulmonary valve disease NOS", "attributes": { "type": "any" } }, { "code": "G14z.00", "description": "Rheumatic endocarditis NOS", "attributes": { "type": "any" } }, { "code": "G14z.11", "description": "Rheumatic valvulitis, chronic NOS", "attributes": { "type": "any" } }, { "code": "G1y..00", "description": "Other specified chronic rheumatic heart disease", "attributes": { "type": "any" } }, { "code": "G1y0.00", "description": "Rheumatic myocarditis", "attributes": { "type": "any" } }, { "code": "G1yz.00", "description": "Other and unspecified rheumatic heart disease", "attributes": { "type": "any" } }, { "code": "G1yz000", "description": "Rheumatic heart disease unspecified", "attributes": { "type": "any" } }, { "code": "G1yz100", "description": "Rheumatic left ventricular failure", "attributes": { "type": "any" } }, { "code": "G1yzz00", "description": "Other rheumatic heart disease NOS", "attributes": { "type": "any" } }, { "code": "G1z..00", "description": "Chronic rheumatic heart disease NOS", "attributes": { "type": "any" } }, { "code": "GA...00", "description": "Rheumatic heart disease", "attributes": { "type": "any" } }, { "code": "GA0..00", "description": "Carditis due to rheumatic fever", "attributes": { "type": "any" } }, { "code": "Gyu0.00", "description": "[X]Acute rheumatic fever", "attributes": { "type": "any" } }, { "code": "Gyu0000", "description": "[X]Other acute rheumatic heart disease", "attributes": { "type": "any" } }, { "code": "Gyu1100", "description": "[X]Other rheumatic aortic valve diseases", "attributes": { "type": "any" } }, { "code": "H571.00", "description": "Rheumatic pneumonia", "attributes": { "type": "any" } }, { "code": "M15y600", "description": "Erythema marginatum in acute rheumatic fever", "attributes": { "type": "any" } }, { "code": "Xaagc", "description": "Carditis due to rheumatic fever", "attributes": { "type": "any" } }, { "code": "XaDyG", "description": "Rheumatic heart disease", "attributes": { "type": "any" } }, { "code": "XE0Ua", "description": "Rheumatic endocarditis NOS", "attributes": { "type": "any" } }, { "code": "XE0UZ", "description": "Mitral stenosis", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/rqbt-0090", "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": 9548, "version_name": "Rheumatic fever", "version_date": "2026-06-08T20:17:55.624184Z", "is_published": true, "is_latest": true } ] } ]