[ { "phenotype_id": "PH4317", "phenotype_version_id": 9535, "name": "Psoriasis", "definition": "A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.\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": "2026-06-08T20:17:18.780460Z", "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": "2026-06-08T20:17:18.771876Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Psoriasis (disorder)", "value": 298419 } ], "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": 10960, "concept_version_id": 18445, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4317", "phenotype_version_id": 9535, "phenotype_name": "Psoriasis", "code_attribute_header": [ "type" ], "codes": [ { "code": "1453", "description": "psoriasis", "attributes": { "type": "any" } }, { "code": "1477", "description": "psoriatic arthropathy", "attributes": { "type": "any" } } ] }, { "concept_id": 10961, "concept_version_id": 18446, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4317", "phenotype_version_id": 9535, "phenotype_name": "Psoriasis", "code_attribute_header": [ "type" ], "codes": [ { "code": "L40", "description": "Psoriasis", "attributes": { "type": "any" } }, { "code": "M07.0", "description": "Distal interphalangeal psoriatic arthropathy", "attributes": { "type": "any" } }, { "code": "M07.1", "description": "Arthritis mutilans", "attributes": { "type": "any" } }, { "code": "M07.2", "description": "Psoriatic spondylitis", "attributes": { "type": "any" } }, { "code": "M07.3", "description": "Other psoriatic arthropathies", "attributes": { "type": "any" } }, { "code": "M09.0", "description": "Juvenile arthritis in psoriasis", "attributes": { "type": "any" } } ] }, { "concept_id": 10962, "concept_version_id": 18447, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4317", "phenotype_version_id": 9535, "phenotype_name": "Psoriasis", "code_attribute_header": [ "type" ], "codes": [ { "code": "L40", "description": "Psoriasis", "attributes": { "type": "any" } }, { "code": "M07.0", "description": "Distal interphalangeal psoriatic arthropathy", "attributes": { "type": "any" } }, { "code": "M07.1", "description": "Arthritis mutilans", "attributes": { "type": "any" } }, { "code": "M07.2", "description": "Psoriatic spondylitis", "attributes": { "type": "any" } }, { "code": "M07.3", "description": "Other psoriatic arthropathies", "attributes": { "type": "any" } }, { "code": "M09.0", "description": "Juvenile arthritis in psoriasis", "attributes": { "type": "any" } } ] }, { "concept_id": 10963, "concept_version_id": 18448, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4317", "phenotype_version_id": 9535, "phenotype_name": "Psoriasis", "code_attribute_header": [ "type" ], "codes": [ { "code": "L40", "description": "Psoriasis", "attributes": { "type": "any" } }, { "code": "M07.0", "description": "Distal interphalangeal psoriatic arthropathy", "attributes": { "type": "any" } }, { "code": "M07.1", "description": "Arthritis mutilans", "attributes": { "type": "any" } }, { "code": "M07.2", "description": "Psoriatic spondylitis", "attributes": { "type": "any" } }, { "code": "M07.3", "description": "Other psoriatic arthropathies", "attributes": { "type": "any" } }, { "code": "M09.0", "description": "Juvenile arthritis in psoriasis", "attributes": { "type": "any" } } ] }, { "concept_id": 10964, "concept_version_id": 18449, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4317", "phenotype_version_id": 9535, "phenotype_name": "Psoriasis", "code_attribute_header": [ "type" ], "codes": [ { "code": "L40", "description": "Psoriasis", "attributes": { "type": "any" } }, { "code": "M07.0", "description": "Distal interphalangeal psoriatic arthropathy", "attributes": { "type": "any" } }, { "code": "M07.1", "description": "Arthritis mutilans", "attributes": { "type": "any" } }, { "code": "M07.2", "description": "Psoriatic spondylitis", "attributes": { "type": "any" } }, { "code": "M07.3", "description": "Other psoriatic arthropathies", "attributes": { "type": "any" } }, { "code": "M09.0", "description": "Juvenile arthritis in psoriasis", "attributes": { "type": "any" } } ] }, { "concept_id": 10965, "concept_version_id": 18450, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4317", "phenotype_version_id": 9535, "phenotype_name": "Psoriasis", "code_attribute_header": [ "type" ], "codes": [ { "code": "14F2.00", "description": "H/O: psoriasis", "attributes": { "type": "prevalent" } }, { "code": "M16..00", "description": "Psoriasis and similar disorders", "attributes": { "type": "any" } }, { "code": "M160.00", "description": "Psoriatic arthropathy", "attributes": { "type": "any" } }, { "code": "M160000", "description": "Psoriasis spondylitica", "attributes": { "type": "any" } }, { "code": "M160100", "description": "Distal interphalangeal psoriatic arthropathy", "attributes": { "type": "any" } }, { "code": "M160.11", "description": "Psoriatic arthritis", "attributes": { "type": "any" } }, { "code": "M160200", "description": "Arthritis mutilans", "attributes": { "type": "any" } }, { "code": "M160z00", "description": "Psoriatic arthropathy NOS", "attributes": { "type": "any" } }, { "code": "M161.00", "description": "Other psoriasis", "attributes": { "type": "any" } }, { "code": "M161000", "description": "Psoriasis unspecified", "attributes": { "type": "any" } }, { "code": "M161100", "description": "Psoriasis annularis", "attributes": { "type": "any" } }, { "code": "M161200", "description": "Psoriasis circinata", "attributes": { "type": "any" } }, { "code": "M161300", "description": "Psoriasis diffusa", "attributes": { "type": "any" } }, { "code": "M161400", "description": "Psoriasis discoidea", "attributes": { "type": "any" } }, { "code": "M161500", "description": "Psoriasis geographica", "attributes": { "type": "any" } }, { "code": "M161600", "description": "Guttate psoriasis", "attributes": { "type": "any" } }, { "code": "M161700", "description": "Psoriasis gyrata", "attributes": { "type": "any" } }, { "code": "M161800", "description": "Psoriasis inveterata", "attributes": { "type": "any" } }, { "code": "M161900", "description": "Psoriasis ostracea", "attributes": { "type": "any" } }, { "code": "M161A00", "description": "Psoriasis palmaris", "attributes": { "type": "any" } }, { "code": "M161B00", "description": "Psoriasis plantaris", "attributes": { "type": "any" } }, { "code": "M161C00", "description": "Psoriasis punctata", "attributes": { "type": "any" } }, { "code": "M161D00", "description": "Pustular psoriasis", "attributes": { "type": "any" } }, { "code": "M161E00", "description": "Psoriasis universalis", "attributes": { "type": "any" } }, { "code": "M161F00", "description": "Psoriasis vulgaris", "attributes": { "type": "any" } }, { "code": "M161F11", "description": "Chronic large plaque psoriasis", "attributes": { "type": "any" } }, { "code": "M161H00", "description": "Erythrodermic psoriasis", "attributes": { "type": "any" } }, { "code": "M161J00", "description": "Flexural psoriasis", "attributes": { "type": "any" } }, { "code": "M161z00", "description": "Psoriasis NOS", "attributes": { "type": "any" } }, { "code": "M166.00", "description": "Palmoplantar pustular psoriasis", "attributes": { "type": "any" } }, { "code": "M16y.00", "description": "Other psoriasis and similar disorders", "attributes": { "type": "any" } }, { "code": "M16y000", "description": "Scalp psoriasis", "attributes": { "type": "any" } }, { "code": "M16z.00", "description": "Psoriasis and similar disorders NOS", "attributes": { "type": "any" } }, { "code": "Myu3000", "description": "[X]Other psoriasis", "attributes": { "type": "any" } }, { "code": "N045200", "description": "Juvenile arthritis in psoriasis", "attributes": { "type": "any" } }, { "code": "Nyu1300", "description": "[X]Other psoriatic arthropathies", "attributes": { "type": "any" } }, { "code": "X506b", "description": "Erythrodermic psoriasis", "attributes": { "type": "any" } }, { "code": "X506i", "description": "Scalp psoriasis", "attributes": { "type": "any" } }, { "code": "X506m", "description": "Palmoplantar pustular psoriasis", "attributes": { "type": "any" } }, { "code": "X506Z", "description": "Flexural psoriasis", "attributes": { "type": "any" } }, { "code": "XaNXt", "description": "Psoriasis vulgaris", "attributes": { "type": "any" } }, { "code": "XaYOx", "description": "Pustular psoriasis", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/nwnw-qs49", "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": 9535, "version_name": "Psoriasis", "version_date": "2026-06-08T20:17:18.792186Z", "is_published": true, "is_latest": true } ] } ]