[ { "phenotype_id": "PH4189", "phenotype_version_id": 9407, "name": "Glaucoma", "definition": "Glaucoma is a common eye condition where the optic nerve, which connects the eye to the brain, becomes damaged.\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": "2026-06-08T20:10:28.737641Z", "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": "2026-06-08T20:10:28.732230Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Glaucoma (disorder)", "value": 747516 } ], "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": "ICD10 codes", "value": 4 }, { "name": "Read codes v3", "value": 6 }, { "name": "OPCS4 codes", "value": 7 }, { "name": "UKBioBank codes", "value": 12 }, { "name": "Non-standard codes", "value": 13 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 10175, "concept_version_id": 17660, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "1277", "description": "glaucoma", "attributes": { "type": "any" } } ] }, { "concept_id": 10176, "concept_version_id": 17661, "concept_name": "Operation code", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "1436", "description": "glaucoma surgery/trabeculectomy", "attributes": { "type": "any" } } ] }, { "concept_id": 10177, "concept_version_id": 17662, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "H40.1", "description": "Primary open-angle glaucoma", "attributes": { "type": "any" } }, { "code": "H40.2", "description": "Primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "H40.9", "description": "Glaucoma, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 10178, "concept_version_id": 17663, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "H40.1", "description": "Primary open-angle glaucoma", "attributes": { "type": "any" } }, { "code": "H40.2", "description": "Primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "H40.9", "description": "Glaucoma, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 10179, "concept_version_id": 17664, "concept_name": "Operative procedures - main OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "C60.1", "description": "Trabeculectomy", "attributes": { "type": "any" } }, { "code": "C60.2", "description": "Inclusion of iris", "attributes": { "type": "any" } }, { "code": "C60.3", "description": "Fixation of iris", "attributes": { "type": "any" } }, { "code": "C60.4", "description": "Iridoplasty NEC", "attributes": { "type": "any" } }, { "code": "C60.5", "description": "Insertion of tube into anterior chamber of eye to assist drainage of aqueous humour", "attributes": { "type": "any" } }, { "code": "C60.6", "description": "Viscocanulostomy", "attributes": { "type": "any" } }, { "code": "C60.8", "description": "Other specified filtering operations on iris", "attributes": { "type": "any" } }, { "code": "C60.9", "description": "Unspecified filtering operations on iris", "attributes": { "type": "any" } }, { "code": "C61.1", "description": "Laser trabeculoplasty", "attributes": { "type": "any" } }, { "code": "C61.2", "description": "Trabeculotomy", "attributes": { "type": "any" } }, { "code": "C61.3", "description": "Goniotomy", "attributes": { "type": "any" } }, { "code": "C61.4", "description": "Goniopuncture", "attributes": { "type": "any" } }, { "code": "C61.5", "description": "Viscogonioplasty", "attributes": { "type": "any" } }, { "code": "C61.8", "description": "Other specified other operations on trabecular meshwork of eye", "attributes": { "type": "any" } }, { "code": "C61.9", "description": "Unspecified other operations on trabecular meshwork of eye", "attributes": { "type": "any" } }, { "code": "C62.1", "description": "Iridosclerotomy", "attributes": { "type": "any" } }, { "code": "C62.2", "description": "Surgical iridotomy", "attributes": { "type": "any" } }, { "code": "C62.3", "description": "Laser iridotomy", "attributes": { "type": "any" } }, { "code": "C62.4", "description": "Correction iridodialysis NEC", "attributes": { "type": "any" } }, { "code": "C62.8", "description": "Other specified incision of iris", "attributes": { "type": "any" } }, { "code": "C62.9", "description": "Unspecified incision of iris", "attributes": { "type": "any" } } ] }, { "concept_id": 10180, "concept_version_id": 17665, "concept_name": "Operative procedures - secondary OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "C60.1", "description": "C60.1", "attributes": { "type": "any" } }, { "code": "C60.2", "description": "C60.2", "attributes": { "type": "any" } }, { "code": "C60.3", "description": "C60.3", "attributes": { "type": "any" } }, { "code": "C60.4", "description": "C60.4", "attributes": { "type": "any" } }, { "code": "C60.5", "description": "C60.5", "attributes": { "type": "any" } }, { "code": "C60.6", "description": "C60.6", "attributes": { "type": "any" } }, { "code": "C60.8", "description": "C60.8", "attributes": { "type": "any" } }, { "code": "C60.9", "description": "C60.9", "attributes": { "type": "any" } }, { "code": "C61.1", "description": "C61.1", "attributes": { "type": "any" } }, { "code": "C61.2", "description": "C61.2", "attributes": { "type": "any" } }, { "code": "C61.3", "description": "C61.3", "attributes": { "type": "any" } }, { "code": "C61.4", "description": "C61.4", "attributes": { "type": "any" } }, { "code": "C61.5", "description": "C61.5", "attributes": { "type": "any" } }, { "code": "C61.8", "description": "C61.8", "attributes": { "type": "any" } }, { "code": "C61.9", "description": "C61.9", "attributes": { "type": "any" } }, { "code": "C62.1", "description": "C62.1", "attributes": { "type": "any" } }, { "code": "C62.2", "description": "C62.2", "attributes": { "type": "any" } }, { "code": "C62.3", "description": "C62.3", "attributes": { "type": "any" } }, { "code": "C62.4", "description": "C62.4", "attributes": { "type": "any" } }, { "code": "C62.8", "description": "C62.8", "attributes": { "type": "any" } }, { "code": "C62.9", "description": "C62.9", "attributes": { "type": "any" } } ] }, { "concept_id": 10181, "concept_version_id": 17666, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "H40.1", "description": "Primary open-angle glaucoma", "attributes": { "type": "any" } }, { "code": "H40.2", "description": "Primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "H40.9", "description": "Glaucoma, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 10182, "concept_version_id": 17667, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "H40.1", "description": "Primary open-angle glaucoma", "attributes": { "type": "any" } }, { "code": "H40.2", "description": "Primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "H40.9", "description": "Glaucoma, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 10183, "concept_version_id": 17668, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "7259.00", "description": "Operations following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "7259000.0", "description": "Needling of bleb following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "7259100.0", "description": "Injection of bleb following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "7259200.0", "description": "Revision of bleb NEC following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "7259300.0", "description": "Removal of releasable suture following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "7259400.0", "description": "Laser suture lysis following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "7259y00", "description": "Other specified operations following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "7259z00", "description": "Operations following glaucoma surgery NOS", "attributes": { "type": "any" } }, { "code": "7275.00", "description": "Pan retinal photocoagulation for glaucoma", "attributes": { "type": "any" } }, { "code": "F404211", "description": "Glaucoma - absolute", "attributes": { "type": "any" } }, { "code": "F45..00", "description": "Glaucoma", "attributes": { "type": "any" } }, { "code": "F450100", "description": "Open angle glaucoma with borderline intraocular pressure", "attributes": { "type": "any" } }, { "code": "F451.00", "description": "Open-angle glaucoma", "attributes": { "type": "any" } }, { "code": "F451000", "description": "Unspecified open-angle glaucoma", "attributes": { "type": "any" } }, { "code": "F451100", "description": "Primary open-angle glaucoma", "attributes": { "type": "any" } }, { "code": "F451111", "description": "Simple chronic glaucoma", "attributes": { "type": "any" } }, { "code": "F4512", "description": "Low tension glaucoma", "attributes": { "type": "any" } }, { "code": "F451200", "description": "Low tension glaucoma", "attributes": { "type": "any" } }, { "code": "F451211", "description": "Normal pressure glaucoma", "attributes": { "type": "any" } }, { "code": "F451500", "description": "Open-angle glaucoma residual stage", "attributes": { "type": "any" } }, { "code": "F451z00", "description": "Open-angle glaucoma NOS", "attributes": { "type": "any" } }, { "code": "F452.00", "description": "Primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "F452000", "description": "Unspecified primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "F452100", "description": "Intermittent primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "F452.11", "description": "Closed angle glaucoma", "attributes": { "type": "any" } }, { "code": "F452200", "description": "Acute primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "F452300", "description": "Chronic primary angle-closure glaucoma", "attributes": { "type": "any" } }, { "code": "F452400", "description": "Primary angle-closure glaucoma residual stage", "attributes": { "type": "any" } }, { "code": "F452500", "description": "Plateau iris", "attributes": { "type": "any" } }, { "code": "F452z00", "description": "Primary angle-closure glaucoma NOS", "attributes": { "type": "any" } }, { "code": "F45y.00", "description": "Other specified forms of glaucoma", "attributes": { "type": "any" } }, { "code": "F45y200", "description": "Low tension glaucoma", "attributes": { "type": "any" } }, { "code": "F45yz00", "description": "Other specified glaucoma NOS", "attributes": { "type": "any" } }, { "code": "F45z.00", "description": "Glaucoma NOS", "attributes": { "type": "any" } }, { "code": "F463100", "description": "Glaucomatous subcapsular flecks", "attributes": { "type": "any" } }, { "code": "F4H1400", "description": "Optic disc glaucomatous atrophy", "attributes": { "type": "any" } }, { "code": "FyuG.00", "description": "[X]Glaucoma", "attributes": { "type": "any" } }, { "code": "X00ed", "description": "Plateau iris", "attributes": { "type": "any" } }, { "code": "XaL59", "description": "Removal of releasable suture following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "XaL5A", "description": "Laser suture lysis following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "XaL5B", "description": "Other specified operations following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "XaL5C", "description": "Operations following glaucoma surgery NOS", "attributes": { "type": "any" } }, { "code": "XaL5m", "description": "Needling of bleb following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "XaL5n", "description": "Injection of bleb following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "XaL5o", "description": "Revision of bleb NEC following glaucoma surgery", "attributes": { "type": "any" } }, { "code": "XE15r", "description": "Blind hypertensive eye", "attributes": { "type": "any" } }, { "code": "XE2a8", "description": "Primary angle-closure glaucoma", "attributes": { "type": "any" } } ] }, { "concept_id": 10184, "concept_version_id": 17669, "concept_name": "Ever had surgery for glaucoma or high eye pressure", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "2", "description": "Right eye only", "attributes": { "type": "any" } }, { "code": "3", "description": "Left eye only", "attributes": { "type": "any" } }, { "code": "4", "description": "Both eyes", "attributes": { "type": "any" } } ] }, { "concept_id": 10185, "concept_version_id": 17670, "concept_name": "Ever had laser treatment for glaucoma or high eye pressure", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "2", "description": "Right eye only", "attributes": { "type": "any" } }, { "code": "3", "description": "Left eye only", "attributes": { "type": "any" } }, { "code": "4", "description": "Both eyes", "attributes": { "type": "any" } } ] }, { "concept_id": 10186, "concept_version_id": 17671, "concept_name": "Which eye(s) affected by glaucoma", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "1", "description": "Right eye", "attributes": { "type": "any" } }, { "code": "2", "description": "Left eye", "attributes": { "type": "any" } }, { "code": "3", "description": "Both eyes", "attributes": { "type": "any" } } ] }, { "concept_id": 10187, "concept_version_id": 17672, "concept_name": "Eye problems/disorders", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4189", "phenotype_version_id": 9407, "phenotype_name": "Glaucoma", "code_attribute_header": [ "type" ], "codes": [ { "code": "2", "description": "Glaucoma", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/vcrc-0w88", "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": 9407, "version_name": "Glaucoma", "version_date": "2026-06-08T20:10:28.745064Z", "is_published": true, "is_latest": true } ] } ]