[ { "phenotype_id": "PH4297", "phenotype_version_id": 9515, "name": "Primary Malignancy_Kidney and Ureter", "definition": "A urinary system cancer that is located_in the kidney.\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": "2026-06-08T20:16:13.736722Z", "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": "2026-06-08T20:16:13.728504Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Neoplasm of kidney (disorder)", "value": 499623 } ], "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": 10821, "concept_version_id": 18306, "concept_name": "Cancer code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4297", "phenotype_version_id": 9515, "phenotype_name": "Primary Malignancy_Kidney and Ureter", "code_attribute_header": [ "type" ], "codes": [ { "code": "1034", "description": "kidney/renal cell cancer", "attributes": { "type": "any" } }, { "code": "1036", "description": "other cancer of urinary tract", "attributes": { "type": "any" } } ] }, { "concept_id": 10822, "concept_version_id": 18307, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4297", "phenotype_version_id": 9515, "phenotype_name": "Primary Malignancy_Kidney and Ureter", "code_attribute_header": [ "type" ], "codes": [ { "code": "C64", "description": "Malignant neoplasm of kidney, except renal pelvis", "attributes": { "type": "any" } }, { "code": "C65", "description": "Malignant neoplasm of renal pelvis", "attributes": { "type": "any" } }, { "code": "C66", "description": "Malignant neoplasm of ureter", "attributes": { "type": "any" } } ] }, { "concept_id": 10823, "concept_version_id": 18308, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4297", "phenotype_version_id": 9515, "phenotype_name": "Primary Malignancy_Kidney and Ureter", "code_attribute_header": [ "type" ], "codes": [ { "code": "C64", "description": "Malignant neoplasm of kidney, except renal pelvis", "attributes": { "type": "any" } }, { "code": "C65", "description": "Malignant neoplasm of renal pelvis", "attributes": { "type": "any" } }, { "code": "C66", "description": "Malignant neoplasm of ureter", "attributes": { "type": "any" } } ] }, { "concept_id": 10824, "concept_version_id": 18309, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4297", "phenotype_version_id": 9515, "phenotype_name": "Primary Malignancy_Kidney and Ureter", "code_attribute_header": [ "type" ], "codes": [ { "code": "C64", "description": "Malignant neoplasm of kidney, except renal pelvis", "attributes": { "type": "any" } }, { "code": "C65", "description": "Malignant neoplasm of renal pelvis", "attributes": { "type": "any" } }, { "code": "C66", "description": "Malignant neoplasm of ureter", "attributes": { "type": "any" } } ] }, { "concept_id": 10825, "concept_version_id": 18310, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4297", "phenotype_version_id": 9515, "phenotype_name": "Primary Malignancy_Kidney and Ureter", "code_attribute_header": [ "type" ], "codes": [ { "code": "C64", "description": "Malignant neoplasm of kidney, except renal pelvis", "attributes": { "type": "any" } }, { "code": "C65", "description": "Malignant neoplasm of renal pelvis", "attributes": { "type": "any" } }, { "code": "C66", "description": "Malignant neoplasm of ureter", "attributes": { "type": "any" } } ] }, { "concept_id": 10826, "concept_version_id": 18311, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4297", "phenotype_version_id": 9515, "phenotype_name": "Primary Malignancy_Kidney and Ureter", "code_attribute_header": [ "type" ], "codes": [ { "code": "B4A0.00", "description": "Malignant neoplasm of kidney parenchyma", "attributes": { "type": "any" } }, { "code": "B4A0000", "description": "Hypernephroma", "attributes": { "type": "any" } }, { "code": "B4A1.00", "description": "Malignant neoplasm of renal pelvis", "attributes": { "type": "any" } }, { "code": "B4A1000", "description": "Malignant neoplasm of renal calyces", "attributes": { "type": "any" } }, { "code": "B4A..11", "description": "Renal malignant neoplasm", "attributes": { "type": "any" } }, { "code": "B4A1100", "description": "Malignant neoplasm of ureteropelvic junction", "attributes": { "type": "any" } }, { "code": "B4A1z00", "description": "Malignant neoplasm of renal pelvis NOS", "attributes": { "type": "any" } }, { "code": "B4A2.00", "description": "Malignant neoplasm of ureter", "attributes": { "type": "any" } }, { "code": "BB5a000", "description": "[M]Renal cell carcinoma", "attributes": { "type": "any" } }, { "code": "BB5a011", "description": "[M]Grawitz tumour", "attributes": { "type": "any" } }, { "code": "BB5a012", "description": "[M]Hypernephroma", "attributes": { "type": "any" } }, { "code": "XE2vQ", "description": "Malignant neoplasm of kidney and other unspecified urinary organs", "attributes": { "type": "any" } }, { "code": "ZV10512", "description": "[V]Personal history of malignant neoplasm of kidney", "attributes": { "type": "prevalent" } }, { "code": "ZV10513", "description": "[V]Personal history of malignant neoplasm of kidney", "attributes": { "type": "prevalent" } } ] }, { "concept_id": 10827, "concept_version_id": 18312, "concept_name": "Type of cancer: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4297", "phenotype_version_id": 9515, "phenotype_name": "Primary Malignancy_Kidney and Ureter", "code_attribute_header": [ "type" ], "codes": [ { "code": "C64", "description": "Malignant neoplasm of kidney, except renal pelvis", "attributes": { "type": "any" } }, { "code": "C65", "description": "Malignant neoplasm of renal pelvis", "attributes": { "type": "any" } }, { "code": "C66", "description": "Malignant neoplasm of ureter", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/64w4-g166", "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": 9515, "version_name": "Primary Malignancy_Kidney and Ureter", "version_date": "2026-06-08T20:16:13.747612Z", "is_published": true, "is_latest": true } ] } ]