[ { "phenotype_id": "PH4159", "phenotype_version_id": 9377, "name": "Diabetes NOS", "definition": "UKB 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": "2026-06-08T20:08:55.326868Z", "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": "2026-06-08T20:08:55.321583Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": null, "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": 9994, "concept_version_id": 17479, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4159", "phenotype_version_id": 9377, "phenotype_name": "Diabetes NOS", "code_attribute_header": [ "type" ], "codes": [ { "code": "1220", "description": "diabetes", "attributes": { "type": "any" } }, { "code": "1276", "description": "diabetic eye disease", "attributes": { "type": "any" } }, { "code": "1468", "description": "diabetic neuropathy/ulcers", "attributes": { "type": "any" } }, { "code": "1607", "description": "diabetic nephropathy", "attributes": { "type": "any" } } ] }, { "concept_id": 9995, "concept_version_id": 17480, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4159", "phenotype_version_id": 9377, "phenotype_name": "Diabetes NOS", "code_attribute_header": [ "type" ], "codes": [ { "code": "E12", "description": "Malnutrition-related diabetes mellitus", "attributes": { "type": "any" } }, { "code": "E13", "description": "Other specified diabetes mellitus", "attributes": { "type": "any" } }, { "code": "E14", "description": "Unspecified diabetes mellitus", "attributes": { "type": "any" } }, { "code": "G59.0", "description": "Diabetic mononeuropathy", "attributes": { "type": "any" } }, { "code": "G63.2", "description": "Diabetic polyneuropathy", "attributes": { "type": "any" } }, { "code": "H28.0", "description": "Diabetic cataract", "attributes": { "type": "any" } }, { "code": "H36.0", "description": "Diabetic retinopathy", "attributes": { "type": "any" } }, { "code": "M14.2", "description": "Diabetic arthropathy", "attributes": { "type": "any" } }, { "code": "N08.3", "description": "Glomerular disorders in diabetes mellitus", "attributes": { "type": "any" } }, { "code": "O24.2", "description": "Diabetes mellitus in pregnancy: Pre-existing malnutrition-related diabetes mellitus", "attributes": { "type": "prevalent" } }, { "code": "O24.3", "description": "Diabetes mellitus in pregnancy: Pre-existing diabetes mellitus, unspecified", "attributes": { "type": "prevalent" } } ] }, { "concept_id": 9996, "concept_version_id": 17481, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4159", "phenotype_version_id": 9377, "phenotype_name": "Diabetes NOS", "code_attribute_header": [ "type" ], "codes": [ { "code": "E12", "description": "Malnutrition-related diabetes mellitus", "attributes": { "type": "any" } }, { "code": "E13", "description": "Other specified diabetes mellitus", "attributes": { "type": "any" } }, { "code": "E14", "description": "Unspecified diabetes mellitus", "attributes": { "type": "any" } }, { "code": "G59.0", "description": "Diabetic mononeuropathy", "attributes": { "type": "any" } }, { "code": "G63.2", "description": "Diabetic polyneuropathy", "attributes": { "type": "any" } }, { "code": "H28.0", "description": "Diabetic cataract", "attributes": { "type": "any" } }, { "code": "H36.0", "description": "Diabetic retinopathy", "attributes": { "type": "any" } }, { "code": "M14.2", "description": "Diabetic arthropathy", "attributes": { "type": "any" } }, { "code": "N08.3", "description": "Glomerular disorders in diabetes mellitus", "attributes": { "type": "any" } }, { "code": "O24.2", "description": "Diabetes mellitus in pregnancy: Pre-existing malnutrition-related diabetes mellitus", "attributes": { "type": "prevalent" } }, { "code": "O24.3", "description": "Diabetes mellitus in pregnancy: Pre-existing diabetes mellitus, unspecified", "attributes": { "type": "prevalent" } } ] }, { "concept_id": 9997, "concept_version_id": 17482, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4159", "phenotype_version_id": 9377, "phenotype_name": "Diabetes NOS", "code_attribute_header": [ "type" ], "codes": [ { "code": "E12", "description": "Malnutrition-related diabetes mellitus", "attributes": { "type": "any" } }, { "code": "E13", "description": "Other specified diabetes mellitus", "attributes": { "type": "any" } }, { "code": "E14", "description": "Unspecified diabetes mellitus", "attributes": { "type": "any" } }, { "code": "G59.0", "description": "Diabetic mononeuropathy", "attributes": { "type": "any" } }, { "code": "G63.2", "description": "Diabetic polyneuropathy", "attributes": { "type": "any" } }, { "code": "H28.0", "description": "Diabetic cataract", "attributes": { "type": "any" } }, { "code": "H36.0", "description": "Diabetic retinopathy", "attributes": { "type": "any" } }, { "code": "M14.2", "description": "Diabetic arthropathy", "attributes": { "type": "any" } }, { "code": "N08.3", "description": "Glomerular disorders in diabetes mellitus", "attributes": { "type": "any" } }, { "code": "O24.2", "description": "Diabetes mellitus in pregnancy: Pre-existing malnutrition-related diabetes mellitus", "attributes": { "type": "prevalent" } }, { "code": "O24.3", "description": "Diabetes mellitus in pregnancy: Pre-existing diabetes mellitus, unspecified", "attributes": { "type": "prevalent" } } ] }, { "concept_id": 9998, "concept_version_id": 17483, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4159", "phenotype_version_id": 9377, "phenotype_name": "Diabetes NOS", "code_attribute_header": [ "type" ], "codes": [ { "code": "E12", "description": "Malnutrition-related diabetes mellitus", "attributes": { "type": "any" } }, { "code": "E13", "description": "Other specified diabetes mellitus", "attributes": { "type": "any" } }, { "code": "E14", "description": "Unspecified diabetes mellitus", "attributes": { "type": "any" } }, { "code": "G59.0", "description": "Diabetic mononeuropathy", "attributes": { "type": "any" } }, { "code": "G63.2", "description": "Diabetic polyneuropathy", "attributes": { "type": "any" } }, { "code": "H28.0", "description": "Diabetic cataract", "attributes": { "type": "any" } }, { "code": "H36.0", "description": "Diabetic retinopathy", "attributes": { "type": "any" } }, { "code": "M14.2", "description": "Diabetic arthropathy", "attributes": { "type": "any" } }, { "code": "N08.3", "description": "Glomerular disorders in diabetes mellitus", "attributes": { "type": "any" } }, { "code": "O24.2", "description": "Diabetes mellitus in pregnancy: Pre-existing malnutrition-related diabetes mellitus", "attributes": { "type": "prevalent" } }, { "code": "O24.3", "description": "Diabetes mellitus in pregnancy: Pre-existing diabetes mellitus, unspecified", "attributes": { "type": "prevalent" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/a8xx-5x98", "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": 9377, "version_name": "Diabetes NOS", "version_date": "2026-06-08T20:08:55.335095Z", "is_published": true, "is_latest": true } ] } ]