[ { "phenotype_id": "PH4097", "phenotype_version_id": 9315, "name": "Anal fissure", "definition": "A painful linear tear at the margin of the anus. It appears as a crack or slit in the mucous membrane of the anus and is very painful and difficult to heal.\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": "2026-06-08T20:05:37.652603Z", "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": "2026-06-08T20:05:37.632354Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Anal fissure (disorder)", "value": 87382 } ], "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 }, { "name": "OPCS4 codes", "value": 7 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 9588, "concept_version_id": 17073, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4097", "phenotype_version_id": 9315, "phenotype_name": "Anal fissure", "code_attribute_header": [ "type" ], "codes": [ { "code": "1504", "description": "anal fissure", "attributes": { "type": "any" } } ] }, { "concept_id": 9589, "concept_version_id": 17074, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4097", "phenotype_version_id": 9315, "phenotype_name": "Anal fissure", "code_attribute_header": [ "type" ], "codes": [ { "code": "K60.0", "description": "Acute anal fissure", "attributes": { "type": "any" } }, { "code": "K60.1", "description": "Chronic anal fissure", "attributes": { "type": "any" } }, { "code": "K60.2", "description": "Anal fissure, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 9590, "concept_version_id": 17075, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4097", "phenotype_version_id": 9315, "phenotype_name": "Anal fissure", "code_attribute_header": [ "type" ], "codes": [ { "code": "K60.0", "description": "Acute anal fissure", "attributes": { "type": "any" } }, { "code": "K60.1", "description": "Chronic anal fissure", "attributes": { "type": "any" } }, { "code": "K60.2", "description": "Anal fissure, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 9591, "concept_version_id": 17076, "concept_name": "Operative procedures - main OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4097", "phenotype_version_id": 9315, "phenotype_name": "Anal fissure", "code_attribute_header": [ "type" ], "codes": [ { "code": "H56.4", "description": "Excision of anal fissure", "attributes": { "type": "any" } } ] }, { "concept_id": 9592, "concept_version_id": 17077, "concept_name": "Operative procedures - secondary OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4097", "phenotype_version_id": 9315, "phenotype_name": "Anal fissure", "code_attribute_header": [ "type" ], "codes": [ { "code": "H56.4", "description": "H56.4", "attributes": { "type": "any" } } ] }, { "concept_id": 9593, "concept_version_id": 17078, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4097", "phenotype_version_id": 9315, "phenotype_name": "Anal fissure", "code_attribute_header": [ "type" ], "codes": [ { "code": "K60.0", "description": "Acute anal fissure", "attributes": { "type": "any" } }, { "code": "K60.1", "description": "Chronic anal fissure", "attributes": { "type": "any" } }, { "code": "K60.2", "description": "Anal fissure, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 9594, "concept_version_id": 17079, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4097", "phenotype_version_id": 9315, "phenotype_name": "Anal fissure", "code_attribute_header": [ "type" ], "codes": [ { "code": "K60.0", "description": "Acute anal fissure", "attributes": { "type": "any" } }, { "code": "K60.1", "description": "Chronic anal fissure", "attributes": { "type": "any" } }, { "code": "K60.2", "description": "Anal fissure, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 9595, "concept_version_id": 17080, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4097", "phenotype_version_id": 9315, "phenotype_name": "Anal fissure", "code_attribute_header": [ "type" ], "codes": [ { "code": "7739300.0", "description": "Excision of anal fissure", "attributes": { "type": "any" } }, { "code": "J53..00", "description": "Anal fissure and fistula", "attributes": { "type": "any" } }, { "code": "J530.00", "description": "Anal fissure", "attributes": { "type": "any" } }, { "code": "J530000", "description": "Acute anal fissure", "attributes": { "type": "any" } }, { "code": "J530100", "description": "Chronic anal fissure", "attributes": { "type": "any" } }, { "code": "J530.11", "description": "Tear of anus - non-traumatic", "attributes": { "type": "any" } }, { "code": "J53z.00", "description": "Anal fissure and fistula NOS", "attributes": { "type": "any" } }, { "code": "J544.00", "description": "Ano-rectal fissure abscess", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/8gxf-4c29", "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": 9315, "version_name": "Anal fissure", "version_date": "2026-06-08T20:05:37.664023Z", "is_published": true, "is_latest": true } ] } ]