[ { "phenotype_id": "PH4149", "phenotype_version_id": 9367, "name": "COPD", "definition": "A disease of chronic diffuse irreversible airflow obstruction.\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": "2026-06-08T20:08:19.766514Z", "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": "2026-06-08T20:08:19.760950Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Chronic obstructive pulmonary disease (disorder)", "value": 560972 } ], "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": "UKBioBank codes", "value": 12 }, { "name": "Non-standard codes", "value": 13 }, { "name": "Read codes v3", "value": 6 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 9926, "concept_version_id": 17411, "concept_name": "Recent medication for COPD", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4149", "phenotype_version_id": 9367, "phenotype_name": "COPD", "code_attribute_header": [ "type" ], "codes": [ { "code": "1", "description": "Yes", "attributes": { "type": "any" } } ] }, { "concept_id": 9927, "concept_version_id": 17412, "concept_name": "Doctor diagnosed COPD (chronic obstructive pulmonary disease)", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4149", "phenotype_version_id": 9367, "phenotype_name": "COPD", "code_attribute_header": [ "type" ], "codes": [ { "code": "1", "description": "COPD", "attributes": { "type": "any" } } ] }, { "concept_id": 9928, "concept_version_id": 17413, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4149", "phenotype_version_id": 9367, "phenotype_name": "COPD", "code_attribute_header": [ "type" ], "codes": [ { "code": "1112", "description": "chronic obstructive airways disease/copd", "attributes": { "type": "any" } }, { "code": "1472", "description": "emphysema", "attributes": { "type": "any" } } ] }, { "concept_id": 9929, "concept_version_id": 17414, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4149", "phenotype_version_id": 9367, "phenotype_name": "COPD", "code_attribute_header": [ "type" ], "codes": [ { "code": "J40", "description": "Bronchitis, not specified as acute or chronic", "attributes": { "type": "any" } }, { "code": "J41", "description": "Simple and mucopurulent chronic bronchitis", "attributes": { "type": "any" } }, { "code": "J42", "description": "Unspecified chronic bronchitis", "attributes": { "type": "any" } }, { "code": "J43", "description": "Emphysema", "attributes": { "type": "any" } }, { "code": "J44", "description": "Other chronic obstructive pulmonary disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9930, "concept_version_id": 17415, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4149", "phenotype_version_id": 9367, "phenotype_name": "COPD", "code_attribute_header": [ "type" ], "codes": [ { "code": "J40", "description": "Bronchitis, not specified as acute or chronic", "attributes": { "type": "any" } }, { "code": "J41", "description": "Simple and mucopurulent chronic bronchitis", "attributes": { "type": "any" } }, { "code": "J42", "description": "Unspecified chronic bronchitis", "attributes": { "type": "any" } }, { "code": "J43", "description": "Emphysema", "attributes": { "type": "any" } }, { "code": "J44", "description": "Other chronic obstructive pulmonary disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9931, "concept_version_id": 17416, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4149", "phenotype_version_id": 9367, "phenotype_name": "COPD", "code_attribute_header": [ "type" ], "codes": [ { "code": "J40", "description": "Bronchitis, not specified as acute or chronic", "attributes": { "type": "any" } }, { "code": "J41", "description": "Simple and mucopurulent chronic bronchitis", "attributes": { "type": "any" } }, { "code": "J42", "description": "Unspecified chronic bronchitis", "attributes": { "type": "any" } }, { "code": "J43", "description": "Emphysema", "attributes": { "type": "any" } }, { "code": "J44", "description": "Other chronic obstructive pulmonary disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9932, "concept_version_id": 17417, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4149", "phenotype_version_id": 9367, "phenotype_name": "COPD", "code_attribute_header": [ "type" ], "codes": [ { "code": "J40", "description": "Bronchitis, not specified as acute or chronic", "attributes": { "type": "any" } }, { "code": "J41", "description": "Simple and mucopurulent chronic bronchitis", "attributes": { "type": "any" } }, { "code": "J42", "description": "Unspecified chronic bronchitis", "attributes": { "type": "any" } }, { "code": "J43", "description": "Emphysema", "attributes": { "type": "any" } }, { "code": "J44", "description": "Other chronic obstructive pulmonary disease", "attributes": { "type": "any" } } ] }, { "concept_id": 9933, "concept_version_id": 17418, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4149", "phenotype_version_id": 9367, "phenotype_name": "COPD", "code_attribute_header": [ "type" ], "codes": [ { "code": "14B3.12", "description": "History of chronic obstructive pulmonary disease", "attributes": { "type": "prevalent" } }, { "code": "H3...00", "description": "Chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "H31..00", "description": "Chronic bronchitis", "attributes": { "type": "any" } }, { "code": "H310.00", "description": "Simple chronic bronchitis", "attributes": { "type": "any" } }, { "code": "H310000", "description": "Chronic catarrhal bronchitis", "attributes": { "type": "any" } }, { "code": "H310z00", "description": "Simple chronic bronchitis NOS", "attributes": { "type": "any" } }, { "code": "H3...11", "description": "Chronic obstructive airways disease", "attributes": { "type": "any" } }, { "code": "H311.00", "description": "Mucopurulent chronic bronchitis", "attributes": { "type": "any" } }, { "code": "H311000", "description": "Purulent chronic bronchitis", "attributes": { "type": "any" } }, { "code": "H311100", "description": "Fetid chronic bronchitis", "attributes": { "type": "any" } }, { "code": "H311z00", "description": "Mucopurulent chronic bronchitis NOS", "attributes": { "type": "any" } }, { "code": "H312.00", "description": "Obstructive chronic bronchitis", "attributes": { "type": "any" } }, { "code": "H312000", "description": "Chronic asthmatic bronchitis", "attributes": { "type": "any" } }, { "code": "H312011", "description": "Chronic wheezy bronchitis", "attributes": { "type": "any" } }, { "code": "H312100", "description": "Emphysematous bronchitis", "attributes": { "type": "any" } }, { "code": "H312200", "description": "Acute exacerbation of chronic obstructive airways disease", "attributes": { "type": "any" } }, { "code": "H312300", "description": "Bronchiolitis obliterans", "attributes": { "type": "any" } }, { "code": "H312z00", "description": "Obstructive chronic bronchitis NOS", "attributes": { "type": "any" } }, { "code": "H313.00", "description": "Mixed simple and mucopurulent chronic bronchitis", "attributes": { "type": "any" } }, { "code": "H31y.00", "description": "Other chronic bronchitis", "attributes": { "type": "any" } }, { "code": "H31y100", "description": "Chronic tracheobronchitis", "attributes": { "type": "any" } }, { "code": "H31yz00", "description": "Other chronic bronchitis NOS", "attributes": { "type": "any" } }, { "code": "H31z.00", "description": "Chronic bronchitis NOS", "attributes": { "type": "any" } }, { "code": "H32..00", "description": "Emphysema", "attributes": { "type": "any" } }, { "code": "H320.00", "description": "Chronic bullous emphysema", "attributes": { "type": "any" } }, { "code": "H320000", "description": "Segmental bullous emphysema", "attributes": { "type": "any" } }, { "code": "H320100", "description": "Zonal bullous emphysema", "attributes": { "type": "any" } }, { "code": "H320200", "description": "Giant bullous emphysema", "attributes": { "type": "any" } }, { "code": "H320300", "description": "Bullous emphysema with collapse", "attributes": { "type": "any" } }, { "code": "H320z00", "description": "Chronic bullous emphysema NOS", "attributes": { "type": "any" } }, { "code": "H321.00", "description": "Panlobular emphysema", "attributes": { "type": "any" } }, { "code": "H322.00", "description": "Centrilobular emphysema", "attributes": { "type": "any" } }, { "code": "H32y.00", "description": "Other emphysema", "attributes": { "type": "any" } }, { "code": "H32y000", "description": "Acute vesicular emphysema", "attributes": { "type": "any" } }, { "code": "H32y100", "description": "Atrophic (senile) emphysema", "attributes": { "type": "any" } }, { "code": "H32y111", "description": "Acute interstitial emphysema", "attributes": { "type": "any" } }, { "code": "H32y200", "description": "MacLeod's unilateral emphysema", "attributes": { "type": "any" } }, { "code": "H32yz00", "description": "Other emphysema NOS", "attributes": { "type": "any" } }, { "code": "H32z.00", "description": "Emphysema NOS", "attributes": { "type": "any" } }, { "code": "H36..00", "description": "Mild chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "H37..00", "description": "Moderate chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "H38..00", "description": "Severe chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "H39..00", "description": "Very severe chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "H3A..00", "description": "End stage chronic obstructive airways disease", "attributes": { "type": "any" } }, { "code": "H3y..00", "description": "Other specified chronic obstructive airways disease", "attributes": { "type": "any" } }, { "code": "H3y0.00", "description": "Chronic obstruct pulmonary dis with acute lower resp infectn", "attributes": { "type": "any" } }, { "code": "H3y1.00", "description": "Chron obstruct pulmonary dis wth acute exacerbation, unspec", "attributes": { "type": "any" } }, { "code": "H3y..11", "description": "Other specified chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "H3z..00", "description": "Chronic obstructive airways disease NOS", "attributes": { "type": "any" } }, { "code": "H3z..11", "description": "Chronic obstructive pulmonary disease NOS", "attributes": { "type": "any" } }, { "code": "H464000", "description": "Chronic emphysema due to chemical fumes", "attributes": { "type": "any" } }, { "code": "H464100", "description": "Obliterative bronchiolitis due to chemical fumes", "attributes": { "type": "any" } }, { "code": "H581.", "description": "(Emphysema: [interstitial] or [mediastinal]) or (pneumomediastinum)", "attributes": { "type": "any" } }, { "code": "H583200", "description": "Eosinophilic bronchitis", "attributes": { "type": "any" } }, { "code": "Hyu3000", "description": "[X]Other emphysema", "attributes": { "type": "any" } }, { "code": "Hyu3100", "description": "[X]Other specified chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "X101i", "description": "Chronic obstructive pulmonary disease with acute exacerbation, unspecified", "attributes": { "type": "any" } }, { "code": "X101l", "description": "Bronchiolitis obliterans", "attributes": { "type": "any" } }, { "code": "Xaa7C", "description": "Eosinophilic bronchitis", "attributes": { "type": "any" } }, { "code": "XaEIV", "description": "Mild chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "XaEIW", "description": "Moderate chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "XaEIY", "description": "Severe chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "XaIND", "description": "End stage chronic obstructive airways disease", "attributes": { "type": "any" } }, { "code": "XaN4a", "description": "Very severe chronic obstructive pulmonary disease", "attributes": { "type": "any" } }, { "code": "XE0YM", "description": "Purulent chronic bronchitis", "attributes": { "type": "any" } }, { "code": "XE0YN", "description": "Bullous emphysema with collapse", "attributes": { "type": "any" } }, { "code": "XE0YO", "description": "Atrophic (senile) emphysema", "attributes": { "type": "any" } }, { "code": "XE0YP", "description": "Other emphysema NOS", "attributes": { "type": "any" } }, { "code": "XM1Qc", "description": "Tension pneumatocele", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/a19g-f086", "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": 9367, "version_name": "COPD", "version_date": "2026-06-08T20:08:19.778054Z", "is_published": true, "is_latest": true } ] } ]