[ { "phenotype_id": "PH4286", "phenotype_version_id": 9504, "name": "Posterior Uveitis", "definition": "Inflammation of the choroid as well as the retina and vitreous body.\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": "2026-06-08T20:15:41.783105Z", "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": "2026-06-08T20:15:41.777303Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Posterior uveitis (disorder)", "value": 523650 } ], "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": 10750, "concept_version_id": 18235, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4286", "phenotype_version_id": 9504, "phenotype_name": "Posterior Uveitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "H30.0", "description": "Focal chorioretinal inflammation", "attributes": { "type": "any" } }, { "code": "H30.1", "description": "Disseminated chorioretinal inflammation", "attributes": { "type": "any" } }, { "code": "H30.8", "description": "Other chorioretinal inflammations", "attributes": { "type": "any" } }, { "code": "H30.9", "description": "Chorioretinal inflammation, unspecified", "attributes": { "type": "any" } }, { "code": "H32.0", "description": "Chorioretinal inflammation in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 10751, "concept_version_id": 18236, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4286", "phenotype_version_id": 9504, "phenotype_name": "Posterior Uveitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "H30.0", "description": "Focal chorioretinal inflammation", "attributes": { "type": "any" } }, { "code": "H30.1", "description": "Disseminated chorioretinal inflammation", "attributes": { "type": "any" } }, { "code": "H30.8", "description": "Other chorioretinal inflammations", "attributes": { "type": "any" } }, { "code": "H30.9", "description": "Chorioretinal inflammation, unspecified", "attributes": { "type": "any" } }, { "code": "H32.0", "description": "Chorioretinal inflammation in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 10752, "concept_version_id": 18237, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4286", "phenotype_version_id": 9504, "phenotype_name": "Posterior Uveitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "H30.0", "description": "Focal chorioretinal inflammation", "attributes": { "type": "any" } }, { "code": "H30.1", "description": "Disseminated chorioretinal inflammation", "attributes": { "type": "any" } }, { "code": "H30.8", "description": "Other chorioretinal inflammations", "attributes": { "type": "any" } }, { "code": "H30.9", "description": "Chorioretinal inflammation, unspecified", "attributes": { "type": "any" } }, { "code": "H32.0", "description": "Chorioretinal inflammation in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 10753, "concept_version_id": 18238, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4286", "phenotype_version_id": 9504, "phenotype_name": "Posterior Uveitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "H30.0", "description": "Focal chorioretinal inflammation", "attributes": { "type": "any" } }, { "code": "H30.1", "description": "Disseminated chorioretinal inflammation", "attributes": { "type": "any" } }, { "code": "H30.8", "description": "Other chorioretinal inflammations", "attributes": { "type": "any" } }, { "code": "H30.9", "description": "Chorioretinal inflammation, unspecified", "attributes": { "type": "any" } }, { "code": "H32.0", "description": "Chorioretinal inflammation in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 10754, "concept_version_id": 18239, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4286", "phenotype_version_id": 9504, "phenotype_name": "Posterior Uveitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "A173000", "description": "Tuberculous chorioretinitis", "attributes": { "type": "any" } }, { "code": "A900.12", "description": "Congenital syphilitic choroiditis", "attributes": { "type": "any" } }, { "code": "A915100", "description": "Secondary syphilitic chorioretinitis", "attributes": { "type": "any" } }, { "code": "A94y200", "description": "Syphilitic disseminated retinochoroiditis", "attributes": { "type": "any" } }, { "code": "AD02.00", "description": "Toxoplasma chorioretinitis", "attributes": { "type": "any" } }, { "code": "F401000", "description": "Sympathetic uveitis", "attributes": { "type": "any" } }, { "code": "F401100", "description": "Panuveitis", "attributes": { "type": "any" } }, { "code": "F430.00", "description": "Focal chorioretinitis and retinochoroiditis", "attributes": { "type": "any" } }, { "code": "F430000", "description": "Unspecified focal chorioretinitis", "attributes": { "type": "any" } }, { "code": "F430100", "description": "Focal juxtapapillary choroiditis", "attributes": { "type": "any" } }, { "code": "F430.11", "description": "Retinitis and chorioretinitis", "attributes": { "type": "any" } }, { "code": "F430200", "description": "Other posterior pole focal chorioretinitis", "attributes": { "type": "any" } }, { "code": "F430300", "description": "Peripheral focal chorioretinitis", "attributes": { "type": "any" } }, { "code": "F430400", "description": "Focal juxtapapillary retinitis", "attributes": { "type": "any" } }, { "code": "F430500", "description": "Focal macular retinochoroiditis", "attributes": { "type": "any" } }, { "code": "F430600", "description": "Other posterior pole focal retinitis", "attributes": { "type": "any" } }, { "code": "F430700", "description": "Peripheral focal retinochoroiditis", "attributes": { "type": "any" } }, { "code": "F430800", "description": "Multifocal choroiditis", "attributes": { "type": "any" } }, { "code": "F430z00", "description": "Focal chorioretinitis or retinochoroiditis NOS", "attributes": { "type": "any" } }, { "code": "F431.00", "description": "Disseminated chorioretinitis and retinochoroiditis", "attributes": { "type": "any" } }, { "code": "F431000", "description": "Unspecified disseminated chorioretinitis", "attributes": { "type": "any" } }, { "code": "F431300", "description": "General disseminated chorioretinitis", "attributes": { "type": "any" } }, { "code": "F431400", "description": "Metastatic disseminated retinitis", "attributes": { "type": "any" } }, { "code": "F431500", "description": "Pigmented epithelial disseminated retinitis", "attributes": { "type": "any" } }, { "code": "F431600", "description": "Punctate inner choroidopathy", "attributes": { "type": "any" } }, { "code": "F431z00", "description": "Disseminated chorioretinitis and retinochoroiditis NOS", "attributes": { "type": "any" } }, { "code": "F432.00", "description": "Other chorioretinitis and retinochoroiditis", "attributes": { "type": "any" } }, { "code": "F432000", "description": "Choroiditis NOS", "attributes": { "type": "any" } }, { "code": "F432100", "description": "Retinitis NOS", "attributes": { "type": "any" } }, { "code": "F432200", "description": "Posterior uveitis NOS", "attributes": { "type": "any" } }, { "code": "F432400", "description": "Harada's disease", "attributes": { "type": "any" } }, { "code": "F432z00", "description": "Other chorioretinitis or retinochoroiditis NOS", "attributes": { "type": "any" } }, { "code": "F442300", "description": "Vogt-Koyanagi syndrome", "attributes": { "type": "any" } }, { "code": "FyuF000", "description": "[X]Other chorioretinal inflammations", "attributes": { "type": "any" } }, { "code": "XaE6M", "description": "Punctate inner choroidopathy", "attributes": { "type": "any" } }, { "code": "XaQIm", "description": "Multifocal choroiditis", "attributes": { "type": "any" } }, { "code": "XE0Ri", "description": "Early congenital syphilis with symptoms", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/k3g7-4t08", "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": 9504, "version_name": "Posterior Uveitis", "version_date": "2026-06-08T20:15:41.794412Z", "is_published": true, "is_latest": true } ] } ]