[ { "phenotype_id": "PH4270", "phenotype_version_id": 9488, "name": "Patent ductus arteriosus", "definition": "A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus is closed shortly after birth.\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": "2026-06-08T20:14:51.679894Z", "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": "2026-06-08T20:14:51.673043Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Patent ductus arteriosus (disorder)", "value": 88031 } ], "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 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 10651, "concept_version_id": 18136, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4270", "phenotype_version_id": 9488, "phenotype_name": "Patent ductus arteriosus", "code_attribute_header": [ "type" ], "codes": [ { "code": "Q25.0", "description": "Patent ductus arteriosus", "attributes": { "type": "any" } } ] }, { "concept_id": 10652, "concept_version_id": 18137, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4270", "phenotype_version_id": 9488, "phenotype_name": "Patent ductus arteriosus", "code_attribute_header": [ "type" ], "codes": [ { "code": "Q25.0", "description": "Patent ductus arteriosus", "attributes": { "type": "any" } } ] }, { "concept_id": 10653, "concept_version_id": 18138, "concept_name": "Operative procedures - main OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4270", "phenotype_version_id": 9488, "phenotype_name": "Patent ductus arteriosus", "code_attribute_header": [ "type" ], "codes": [ { "code": "L02", "description": "Open correction of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "L02.1", "description": "Division of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "L02.2", "description": "Ligature of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "L02.3", "description": "Closure of patent ductus arteriosus NEC", "attributes": { "type": "any" } }, { "code": "L02.4", "description": "Revision of correction of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "L02.8", "description": "Other specified open correction of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "L02.9", "description": "Unspecified open correction of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "L03", "description": "Transluminal operations on abnormality of great vessel", "attributes": { "type": "any" } }, { "code": "L03.1", "description": "Percutaneous transluminal prosthetic occlusion of patent ductus arteriosus", "attributes": { "type": "any" } } ] }, { "concept_id": 10654, "concept_version_id": 18139, "concept_name": "Operative procedures - secondary OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4270", "phenotype_version_id": 9488, "phenotype_name": "Patent ductus arteriosus", "code_attribute_header": [ "type" ], "codes": [ { "code": "L02", "description": "L02", "attributes": { "type": "any" } }, { "code": "L02.1", "description": "L02.1", "attributes": { "type": "any" } }, { "code": "L02.2", "description": "L02.2", "attributes": { "type": "any" } }, { "code": "L02.3", "description": "L02.3", "attributes": { "type": "any" } }, { "code": "L02.4", "description": "L02.4", "attributes": { "type": "any" } }, { "code": "L02.8", "description": "L02.8", "attributes": { "type": "any" } }, { "code": "L02.9", "description": "L02.9", "attributes": { "type": "any" } }, { "code": "L03", "description": "L03", "attributes": { "type": "any" } }, { "code": "L03.1", "description": "L03.1", "attributes": { "type": "any" } } ] }, { "concept_id": 10655, "concept_version_id": 18140, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4270", "phenotype_version_id": 9488, "phenotype_name": "Patent ductus arteriosus", "code_attribute_header": [ "type" ], "codes": [ { "code": "Q25.0", "description": "Patent ductus arteriosus", "attributes": { "type": "any" } } ] }, { "concept_id": 10656, "concept_version_id": 18141, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4270", "phenotype_version_id": 9488, "phenotype_name": "Patent ductus arteriosus", "code_attribute_header": [ "type" ], "codes": [ { "code": "Q25.0", "description": "Patent ductus arteriosus", "attributes": { "type": "any" } } ] }, { "concept_id": 10657, "concept_version_id": 18142, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4270", "phenotype_version_id": 9488, "phenotype_name": "Patent ductus arteriosus", "code_attribute_header": [ "type" ], "codes": [ { "code": "7A01.00", "description": "Open correction of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "7A01000", "description": "Division of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "7A01100", "description": "Ligation of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "7A01.11", "description": "Open correction of patent ductus arteriosus (PDA)", "attributes": { "type": "any" } }, { "code": "7A01200", "description": "Closure of patent ductus arteriosus NEC", "attributes": { "type": "any" } }, { "code": "7A01300", "description": "Revision of correction of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "7A01y00", "description": "Other specified open correction of patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "7A01z00", "description": "Open correction of patent ductus arteriosus NOS", "attributes": { "type": "any" } }, { "code": "7A02000", "description": "Percut transluminal prosth occlusion patent ductus arterios", "attributes": { "type": "any" } }, { "code": "7A02011", "description": "Percut translum prosth occlus patent ductus arteriosus (PDA)", "attributes": { "type": "any" } }, { "code": "P70..00", "description": "Patent ductus arteriosus", "attributes": { "type": "any" } }, { "code": "P70..11", "description": "Botalli's patent ductus", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/1m8x-vm04", "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": 9488, "version_name": "Patent ductus arteriosus", "version_date": "2026-06-08T20:14:51.692205Z", "is_published": true, "is_latest": true } ] } ]