[ { "phenotype_id": "PH4128", "phenotype_version_id": 9346, "name": "Infection of bones and joints", "definition": "Infection of bones and joints\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": "2026-06-08T20:07:14.121303Z", "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": "2026-06-08T20:07:14.115819Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Musculoskeletal infective disorder (disorder)", "value": 189296 } ], "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 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 9781, "concept_version_id": 17266, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4128", "phenotype_version_id": 9346, "phenotype_name": "Infection of bones and joints", "code_attribute_header": [ "type" ], "codes": [ { "code": "1308", "description": "osteomyelitis", "attributes": { "type": "any" } } ] }, { "concept_id": 9782, "concept_version_id": 17267, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4128", "phenotype_version_id": 9346, "phenotype_name": "Infection of bones and joints", "code_attribute_header": [ "type" ], "codes": [ { "code": "A18.0", "description": "Tuberculosis of bones and joints", "attributes": { "type": "any" } }, { "code": "A54.4", "description": "Gonococcal infection of musculoskeletal system", "attributes": { "type": "any" } }, { "code": "B45.3", "description": "Osseous cryptococcosis", "attributes": { "type": "any" } }, { "code": "B67.2", "description": "Echinococcus granulosus infection of bone", "attributes": { "type": "any" } }, { "code": "B90.2", "description": "Sequelae of tuberculosis of bones and joints", "attributes": { "type": "any" } }, { "code": "M00", "description": "Pyogenic arthritis", "attributes": { "type": "any" } }, { "code": "M01", "description": "Direct infections of joint in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M46.2", "description": "Osteomyelitis of vertebra", "attributes": { "type": "any" } }, { "code": "M46.3", "description": "Infection of intervertebral disc (pyogenic)", "attributes": { "type": "any" } }, { "code": "M46.4", "description": "Discitis, unspecified", "attributes": { "type": "any" } }, { "code": "M46.5", "description": "Other infective spondylopathies", "attributes": { "type": "any" } }, { "code": "M49.0", "description": "Tuberculosis of spine", "attributes": { "type": "any" } }, { "code": "M49.1", "description": "Brucella spondylitis", "attributes": { "type": "any" } }, { "code": "M49.2", "description": "Enterobacterial spondylitis", "attributes": { "type": "any" } }, { "code": "M49.3", "description": "Spondylopathy in other infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M86", "description": "Osteomyelitis", "attributes": { "type": "any" } }, { "code": "M90.0", "description": "Tuberculosis of bone", "attributes": { "type": "any" } }, { "code": "M90.1", "description": "Periostitis in other infectious diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M90.2", "description": "Osteopathy in other infectious diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 9783, "concept_version_id": 17268, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4128", "phenotype_version_id": 9346, "phenotype_name": "Infection of bones and joints", "code_attribute_header": [ "type" ], "codes": [ { "code": "A18.0", "description": "Tuberculosis of bones and joints", "attributes": { "type": "any" } }, { "code": "A54.4", "description": "Gonococcal infection of musculoskeletal system", "attributes": { "type": "any" } }, { "code": "B45.3", "description": "Osseous cryptococcosis", "attributes": { "type": "any" } }, { "code": "B67.2", "description": "Echinococcus granulosus infection of bone", "attributes": { "type": "any" } }, { "code": "B90.2", "description": "Sequelae of tuberculosis of bones and joints", "attributes": { "type": "any" } }, { "code": "M00", "description": "Pyogenic arthritis", "attributes": { "type": "any" } }, { "code": "M01", "description": "Direct infections of joint in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M46.2", "description": "Osteomyelitis of vertebra", "attributes": { "type": "any" } }, { "code": "M46.3", "description": "Infection of intervertebral disc (pyogenic)", "attributes": { "type": "any" } }, { "code": "M46.4", "description": "Discitis, unspecified", "attributes": { "type": "any" } }, { "code": "M46.5", "description": "Other infective spondylopathies", "attributes": { "type": "any" } }, { "code": "M49.0", "description": "Tuberculosis of spine", "attributes": { "type": "any" } }, { "code": "M49.1", "description": "Brucella spondylitis", "attributes": { "type": "any" } }, { "code": "M49.2", "description": "Enterobacterial spondylitis", "attributes": { "type": "any" } }, { "code": "M49.3", "description": "Spondylopathy in other infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M86", "description": "Osteomyelitis", "attributes": { "type": "any" } }, { "code": "M90.0", "description": "Tuberculosis of bone", "attributes": { "type": "any" } }, { "code": "M90.1", "description": "Periostitis in other infectious diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M90.2", "description": "Osteopathy in other infectious diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 9784, "concept_version_id": 17269, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4128", "phenotype_version_id": 9346, "phenotype_name": "Infection of bones and joints", "code_attribute_header": [ "type" ], "codes": [ { "code": "A18.0", "description": "Tuberculosis of bones and joints", "attributes": { "type": "any" } }, { "code": "A54.4", "description": "Gonococcal infection of musculoskeletal system", "attributes": { "type": "any" } }, { "code": "B45.3", "description": "Osseous cryptococcosis", "attributes": { "type": "any" } }, { "code": "B67.2", "description": "Echinococcus granulosus infection of bone", "attributes": { "type": "any" } }, { "code": "B90.2", "description": "Sequelae of tuberculosis of bones and joints", "attributes": { "type": "any" } }, { "code": "M00", "description": "Pyogenic arthritis", "attributes": { "type": "any" } }, { "code": "M01", "description": "Direct infections of joint in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M46.2", "description": "Osteomyelitis of vertebra", "attributes": { "type": "any" } }, { "code": "M46.3", "description": "Infection of intervertebral disc (pyogenic)", "attributes": { "type": "any" } }, { "code": "M46.4", "description": "Discitis, unspecified", "attributes": { "type": "any" } }, { "code": "M46.5", "description": "Other infective spondylopathies", "attributes": { "type": "any" } }, { "code": "M49.0", "description": "Tuberculosis of spine", "attributes": { "type": "any" } }, { "code": "M49.1", "description": "Brucella spondylitis", "attributes": { "type": "any" } }, { "code": "M49.2", "description": "Enterobacterial spondylitis", "attributes": { "type": "any" } }, { "code": "M49.3", "description": "Spondylopathy in other infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M86", "description": "Osteomyelitis", "attributes": { "type": "any" } }, { "code": "M90.0", "description": "Tuberculosis of bone", "attributes": { "type": "any" } }, { "code": "M90.1", "description": "Periostitis in other infectious diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M90.2", "description": "Osteopathy in other infectious diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 9785, "concept_version_id": 17270, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4128", "phenotype_version_id": 9346, "phenotype_name": "Infection of bones and joints", "code_attribute_header": [ "type" ], "codes": [ { "code": "A18.0", "description": "Tuberculosis of bones and joints", "attributes": { "type": "any" } }, { "code": "A54.4", "description": "Gonococcal infection of musculoskeletal system", "attributes": { "type": "any" } }, { "code": "B45.3", "description": "Osseous cryptococcosis", "attributes": { "type": "any" } }, { "code": "B67.2", "description": "Echinococcus granulosus infection of bone", "attributes": { "type": "any" } }, { "code": "B90.2", "description": "Sequelae of tuberculosis of bones and joints", "attributes": { "type": "any" } }, { "code": "M00", "description": "Pyogenic arthritis", "attributes": { "type": "any" } }, { "code": "M01", "description": "Direct infections of joint in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M46.2", "description": "Osteomyelitis of vertebra", "attributes": { "type": "any" } }, { "code": "M46.3", "description": "Infection of intervertebral disc (pyogenic)", "attributes": { "type": "any" } }, { "code": "M46.4", "description": "Discitis, unspecified", "attributes": { "type": "any" } }, { "code": "M46.5", "description": "Other infective spondylopathies", "attributes": { "type": "any" } }, { "code": "M49.0", "description": "Tuberculosis of spine", "attributes": { "type": "any" } }, { "code": "M49.1", "description": "Brucella spondylitis", "attributes": { "type": "any" } }, { "code": "M49.2", "description": "Enterobacterial spondylitis", "attributes": { "type": "any" } }, { "code": "M49.3", "description": "Spondylopathy in other infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M86", "description": "Osteomyelitis", "attributes": { "type": "any" } }, { "code": "M90.0", "description": "Tuberculosis of bone", "attributes": { "type": "any" } }, { "code": "M90.1", "description": "Periostitis in other infectious diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "M90.2", "description": "Osteopathy in other infectious diseases classified elsewhere", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/q5k0-8w29", "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": 9346, "version_name": "Infection of bones and joints", "version_date": "2026-06-08T20:07:14.132998Z", "is_published": true, "is_latest": true } ] } ]