[ { "phenotype_id": "PH4127", "phenotype_version_id": 9345, "name": "Visual impairment and blindness", "definition": "An eye disease characterized by a lack or loss of vision.\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": "2026-06-08T20:07:11.107919Z", "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": "2026-06-08T20:07:11.102226Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Visual impairment (disorder)", "value": 476855 } ], "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 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 9776, "concept_version_id": 17261, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4127", "phenotype_version_id": 9345, "phenotype_name": "Visual impairment and blindness", "code_attribute_header": [ "type" ], "codes": [ { "code": "H54", "description": "Visual impairment including blindness (binocular or monocular)", "attributes": { "type": "any" } } ] }, { "concept_id": 9777, "concept_version_id": 17262, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4127", "phenotype_version_id": 9345, "phenotype_name": "Visual impairment and blindness", "code_attribute_header": [ "type" ], "codes": [ { "code": "H54", "description": "Visual impairment including blindness (binocular or monocular)", "attributes": { "type": "any" } } ] }, { "concept_id": 9778, "concept_version_id": 17263, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4127", "phenotype_version_id": 9345, "phenotype_name": "Visual impairment and blindness", "code_attribute_header": [ "type" ], "codes": [ { "code": "H54", "description": "Visual impairment including blindness (binocular or monocular)", "attributes": { "type": "any" } } ] }, { "concept_id": 9779, "concept_version_id": 17264, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4127", "phenotype_version_id": 9345, "phenotype_name": "Visual impairment and blindness", "code_attribute_header": [ "type" ], "codes": [ { "code": "H54", "description": "Visual impairment including blindness (binocular or monocular)", "attributes": { "type": "any" } } ] }, { "concept_id": 9780, "concept_version_id": 17265, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4127", "phenotype_version_id": 9345, "phenotype_name": "Visual impairment and blindness", "code_attribute_header": [ "type" ], "codes": [ { "code": "1B75.00", "description": "Loss of vision", "attributes": { "type": "any" } }, { "code": "2B6A.11", "description": "O/E - blind R-eye", "attributes": { "type": "any" } }, { "code": "2B6B.00", "description": "O/E - R-eye completely blind", "attributes": { "type": "any" } }, { "code": "2B6S.00", "description": "O/E - pinhole R-eye completely blind", "attributes": { "type": "any" } }, { "code": "2B7A.11", "description": "O/E - blind L-eye", "attributes": { "type": "any" } }, { "code": "2B7B.00", "description": "O/E - L-eye completely blind", "attributes": { "type": "any" } }, { "code": "2B7S.00", "description": "O/E - pinhole L-eye completely blind", "attributes": { "type": "any" } }, { "code": "2BBo.00", "description": "O/E - sight threatening diabetic retinopathy", "attributes": { "type": "any" } }, { "code": "2BBr.00", "description": "Impaired vision due to diabetic retinopathy", "attributes": { "type": "any" } }, { "code": "6688", "description": "Registered partially sighted", "attributes": { "type": "any" } }, { "code": "6688.11", "description": "Registered partially blind", "attributes": { "type": "any" } }, { "code": "6689", "description": "Registered blind", "attributes": { "type": "any" } }, { "code": "6689.11", "description": "Registered severely sight impaired", "attributes": { "type": "any" } }, { "code": "668D.00", "description": "Registered sight impaired", "attributes": { "type": "any" } }, { "code": "8F61.00", "description": "Blind rehabilitation", "attributes": { "type": "any" } }, { "code": "8F6..11", "description": "Blind rehabilitation", "attributes": { "type": "any" } }, { "code": "8F62.00", "description": "Blind lead dog rehabilitation", "attributes": { "type": "any" } }, { "code": "8HlE.00", "description": "Referral to visual impairment multidisciplinary team", "attributes": { "type": "any" } }, { "code": "9m08.00", "description": "Excluded from diabetic retinopathy screening as blind", "attributes": { "type": "any" } }, { "code": "9NfB.00", "description": "Requires deafblind communicator guide", "attributes": { "type": "any" } }, { "code": "9NlD.00", "description": "Seen by visual impairment teacher", "attributes": { "type": "any" } }, { "code": "F404100", "description": "Blind hypotensive eye", "attributes": { "type": "any" } }, { "code": "F404200", "description": "Blind hypertensive eye", "attributes": { "type": "any" } }, { "code": "F49..00", "description": "Blindness and low vision", "attributes": { "type": "any" } }, { "code": "F490.00", "description": "Blindness, both eyes", "attributes": { "type": "any" } }, { "code": "F490000", "description": "Unspecified blindness both eyes", "attributes": { "type": "any" } }, { "code": "F490100", "description": "Both eyes total visual impairment", "attributes": { "type": "any" } }, { "code": "F490200", "description": "Better eye: near total VI, Lesser eye: unspecified", "attributes": { "type": "any" } }, { "code": "F490400", "description": "Better eye: near total VI, Lesser eye: near total VI", "attributes": { "type": "any" } }, { "code": "F490600", "description": "Better eye: profound VI, Lesser eye: total VI", "attributes": { "type": "any" } }, { "code": "F490900", "description": "Acquired blindness, both eyes", "attributes": { "type": "any" } }, { "code": "F490z00", "description": "Blindness both eyes NOS", "attributes": { "type": "any" } }, { "code": "F491.00", "description": "Better eye: low vision, Lesser eye: profound VI", "attributes": { "type": "any" } }, { "code": "F491000", "description": "One eye blind, one eye low vision", "attributes": { "type": "any" } }, { "code": "F49..11", "description": "Impaired vision", "attributes": { "type": "any" } }, { "code": "F491100", "description": "Better eye: severe VI, Lesser eye: blind, unspecified", "attributes": { "type": "any" } }, { "code": "F49..13", "description": "Partial sight", "attributes": { "type": "any" } }, { "code": "F491300", "description": "Better eye: severe VI, Lesser eye: near total VI", "attributes": { "type": "any" } }, { "code": "F49..14", "description": "Sight impaired", "attributes": { "type": "any" } }, { "code": "F491400", "description": "Better eye: severe VI, Lesser eye: profound VI", "attributes": { "type": "any" } }, { "code": "F491500", "description": "Better eye: moderate VI, Lesser eye: blind, unspecified", "attributes": { "type": "any" } }, { "code": "F491700", "description": "Better eye: moderate VI, Lesser eye: near total VI", "attributes": { "type": "any" } }, { "code": "F491z00", "description": "One eye blind, one eye low vision NOS", "attributes": { "type": "any" } }, { "code": "F492.00", "description": "Low vision, both eyes", "attributes": { "type": "any" } }, { "code": "F492000", "description": "Low vision, both eyes unspecified", "attributes": { "type": "any" } }, { "code": "F492200", "description": "Better eye: severe VI, Lesser eye: severe VI", "attributes": { "type": "any" } }, { "code": "F492300", "description": "Better eye: moderate VI, Lesser eye: low vision unspecified", "attributes": { "type": "any" } }, { "code": "F492400", "description": "Better eye: moderate VI, Lesser eye: severe VI", "attributes": { "type": "any" } }, { "code": "F492500", "description": "Better eye: moderate VI, Lesser eye: moderate VI", "attributes": { "type": "any" } }, { "code": "F492z00", "description": "Low vision, both eyes NOS", "attributes": { "type": "any" } }, { "code": "F493.00", "description": "Visual loss, both eyes unqualified", "attributes": { "type": "any" } }, { "code": "F494.00", "description": "Legal blindness USA", "attributes": { "type": "any" } }, { "code": "F495.00", "description": "Profound impairment, one eye", "attributes": { "type": "any" } }, { "code": "F495000", "description": "Blindness, one eye, unspecified", "attributes": { "type": "any" } }, { "code": "F495100", "description": "Lesser eye: total visual impairment, Better eye: unspecified", "attributes": { "type": "any" } }, { "code": "F495200", "description": "Lesser eye: total VI, Better eye: near normal vision", "attributes": { "type": "any" } }, { "code": "F495300", "description": "Lesser eye: total VI, Better eye: normal vision", "attributes": { "type": "any" } }, { "code": "F495400", "description": "Lesser eye: near total VI, Better eye: unspecified", "attributes": { "type": "any" } }, { "code": "F495500", "description": "Lesser eye: near total VI, Better eye: near normal vision", "attributes": { "type": "any" } }, { "code": "F495600", "description": "Lesser eye: near total VI, Better eye: normal vision", "attributes": { "type": "any" } }, { "code": "F495800", "description": "Lesser eye: profound VI, Better eye: near normal vision", "attributes": { "type": "any" } }, { "code": "F495A00", "description": "Acquired blindness, one eye", "attributes": { "type": "any" } }, { "code": "F495z00", "description": "Profound impairment one eye NOS", "attributes": { "type": "any" } }, { "code": "F496.00", "description": "Low vision, one eye", "attributes": { "type": "any" } }, { "code": "F496000", "description": "Low vision, one eye, unspecified", "attributes": { "type": "any" } }, { "code": "F496100", "description": "Lesser eye: severe VI, Better eye: unspecified", "attributes": { "type": "any" } }, { "code": "F496200", "description": "Lesser eye: severe VI, Better eye: near normal vision", "attributes": { "type": "any" } }, { "code": "F496300", "description": "Lesser eye: severe VI, Better eye: normal vision", "attributes": { "type": "any" } }, { "code": "F496400", "description": "Lesser eye: moderate VI, Better eye: unspecified", "attributes": { "type": "any" } }, { "code": "F496500", "description": "Lesser eye: moderate VI, Better eye: near normal vision", "attributes": { "type": "any" } }, { "code": "F496600", "description": "Lesser eye: moderate VI, Better eye: normal vision", "attributes": { "type": "any" } }, { "code": "F496z00", "description": "Low vision, one eye NOS", "attributes": { "type": "any" } }, { "code": "F497.00", "description": "Severe visual impairment, binocular", "attributes": { "type": "any" } }, { "code": "F498.00", "description": "Moderate visual impairment, binocular", "attributes": { "type": "any" } }, { "code": "F499.00", "description": "Mild or no visual impairment, binocular", "attributes": { "type": "any" } }, { "code": "F49A.00", "description": "Blindness, monocular", "attributes": { "type": "any" } }, { "code": "F49B.00", "description": "Severe visual impairment, monocular", "attributes": { "type": "any" } }, { "code": "F49C.00", "description": "Moderate visual impairment, monocular", "attributes": { "type": "any" } }, { "code": "F49y.00", "description": "Visual loss, one eye, unqualified", "attributes": { "type": "any" } }, { "code": "F49z.00", "description": "Visual loss NOS", "attributes": { "type": "any" } }, { "code": "F49z000", "description": "Charles Bonnet syndrome", "attributes": { "type": "any" } }, { "code": "F49z.11", "description": "Acquired blindness", "attributes": { "type": "any" } }, { "code": "F4H7300", "description": "Cortical blindness", "attributes": { "type": "any" } }, { "code": "Fy1..00", "description": "Combined visual and hearing impairment", "attributes": { "type": "any" } }, { "code": "FyuL.00", "description": "[X]Visual disturbances and blindness", "attributes": { "type": "any" } }, { "code": "SJ0z.11", "description": "Blindness - traumatic - NOS", "attributes": { "type": "any" } }, { "code": "Ua1f0", "description": "Blindness, monocular", "attributes": { "type": "any" } }, { "code": "XaE6s", "description": "Acquired blindness, both eyes", "attributes": { "type": "any" } }, { "code": "XaE6t", "description": "Acquired blindness, one eye", "attributes": { "type": "any" } }, { "code": "XaJTV", "description": "O/E - pinhole L-eye completely blind", "attributes": { "type": "any" } }, { "code": "XaJTZ", "description": "O/E - pinhole R-eye completely blind", "attributes": { "type": "any" } }, { "code": "XaKcS", "description": "O/E - sight threatening diabetic retinopathy", "attributes": { "type": "any" } }, { "code": "XaPen", "description": "Impaired vision due to diabetic retinopathy", "attributes": { "type": "any" } }, { "code": "XaPjK", "description": "Excluded from diabetic retinopathy screening as blind", "attributes": { "type": "any" } }, { "code": "XaPtF", "description": "Seen by visual impairment teacher", "attributes": { "type": "any" } }, { "code": "XaQ8m", "description": "Referral to visual impairment multidisciplinary team", "attributes": { "type": "any" } }, { "code": "XaW0l", "description": "Registered sight impaired", "attributes": { "type": "any" } }, { "code": "XaYB3", "description": "Requires deafblind communicator guide", "attributes": { "type": "any" } }, { "code": "XaYPJ", "description": "Combined visual and hearing impairment", "attributes": { "type": "any" } }, { "code": "XE15r", "description": "Blind hypertensive eye", "attributes": { "type": "any" } }, { "code": "XE16M", "description": "Visual loss NOS", "attributes": { "type": "any" } }, { "code": "XE1i1", "description": "O/E-R-eye perceives light only", "attributes": { "type": "any" } }, { "code": "XE1i2", "description": "O/E-L-eye perceives light only", "attributes": { "type": "any" } }, { "code": "XE1o4", "description": "Optic nerve or pathway injury NOS", "attributes": { "type": "any" } }, { "code": "Z96..00", "description": "Provision for visual and hearing impairment", "attributes": { "type": "any" } }, { "code": "Z961.00", "description": "Provision of guide help for visual and hearing impairment", "attributes": { "type": "any" } }, { "code": "Z962.00", "description": "Provision of communicator for visual and hearing impairment", "attributes": { "type": "any" } }, { "code": "ZK74.00", "description": "Issue of local authority blind registration", "attributes": { "type": "any" } }, { "code": "ZN56800", "description": "Blind telephone user", "attributes": { "type": "any" } }, { "code": "ZN56A00", "description": "Deaf-blind telephone user", "attributes": { "type": "any" } }, { "code": "ZRhO.00", "description": "Reynell Zinkin language scale for the visually impaired", "attributes": { "type": "any" } }, { "code": "ZRr6.00", "description": "Vineland maturity scales adapted for the blind", "attributes": { "type": "any" } }, { "code": "ZV41000", "description": "[V]Problems with sight", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/x9ax-jw57", "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": 9345, "version_name": "Visual impairment and blindness", "version_date": "2026-06-08T20:07:11.119912Z", "is_published": true, "is_latest": true } ] } ]