[ { "phenotype_id": "PH4109", "phenotype_version_id": 9327, "name": "Asthma", "definition": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.\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": "2026-06-08T20:06:12.971117Z", "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": "2026-06-08T20:06:12.965471Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Asthma (disorder)", "value": 262802 } ], "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": 9666, "concept_version_id": 17151, "concept_name": "Recent medication for asthma", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "1", "description": "Yes", "attributes": { "type": "any" } } ] }, { "concept_id": 9667, "concept_version_id": 17152, "concept_name": "Doctor diagnosed asthma", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "1", "description": "asthma", "attributes": { "type": "any" } } ] }, { "concept_id": 9668, "concept_version_id": 17153, "concept_name": "Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor", "coding_system": { "id": 13, "name": "Non-standard codes", "description": "Non-standard codes" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "8", "description": "asthma", "attributes": { "type": "any" } } ] }, { "concept_id": 9669, "concept_version_id": 17154, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "1111", "description": "asthma", "attributes": { "type": "any" } } ] }, { "concept_id": 9670, "concept_version_id": 17155, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "J45", "description": "Asthma", "attributes": { "type": "any" } }, { "code": "J46", "description": "Status asthmaticus", "attributes": { "type": "any" } } ] }, { "concept_id": 9671, "concept_version_id": 17156, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "J45", "description": "Asthma", "attributes": { "type": "any" } }, { "code": "J46", "description": "Status asthmaticus", "attributes": { "type": "any" } } ] }, { "concept_id": 9672, "concept_version_id": 17157, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "J45", "description": "Asthma", "attributes": { "type": "any" } }, { "code": "J46", "description": "Status asthmaticus", "attributes": { "type": "any" } } ] }, { "concept_id": 9673, "concept_version_id": 17158, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "J45", "description": "Asthma", "attributes": { "type": "any" } }, { "code": "J46", "description": "Status asthmaticus", "attributes": { "type": "any" } } ] }, { "concept_id": 9674, "concept_version_id": 17159, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4109", "phenotype_version_id": 9327, "phenotype_name": "Asthma", "code_attribute_header": [ "type" ], "codes": [ { "code": "14B4.00", "description": "H/O: asthma", "attributes": { "type": "prevalent" } }, { "code": "173A.00", "description": "Exercise induced asthma", "attributes": { "type": "any" } }, { "code": "173c.00", "description": "Occupational asthma", "attributes": { "type": "any" } }, { "code": "173d.00", "description": "Work aggravated asthma", "attributes": { "type": "any" } }, { "code": "1780.00", "description": "Aspirin induced asthma", "attributes": { "type": "any" } }, { "code": "1O2..00", "description": "Asthma confirmed", "attributes": { "type": "any" } }, { "code": "21262", "description": "Asthma resolved", "attributes": { "type": "any" } }, { "code": "2126200.0", "description": "Asthma resolved", "attributes": { "type": "any" } }, { "code": "212G.00", "description": "Asthma resolved", "attributes": { "type": "any" } }, { "code": "H312000", "description": "Chronic asthmatic bronchitis", "attributes": { "type": "any" } }, { "code": "H33..00", "description": "Asthma", "attributes": { "type": "any" } }, { "code": "H330.00", "description": "Extrinsic (atopic) asthma", "attributes": { "type": "any" } }, { "code": "H330000", "description": "Extrinsic asthma without status asthmaticus", "attributes": { "type": "any" } }, { "code": "H330011", "description": "Hay fever with asthma", "attributes": { "type": "any" } }, { "code": "H330100", "description": "Extrinsic asthma with status asthmaticus", "attributes": { "type": "any" } }, { "code": "H330.11", "description": "Allergic asthma", "attributes": { "type": "any" } }, { "code": "H330111", "description": "Extrinsic asthma with asthma attack", "attributes": { "type": "any" } }, { "code": "H330.12", "description": "Childhood asthma", "attributes": { "type": "any" } }, { "code": "H330.13", "description": "Hay fever with asthma", "attributes": { "type": "any" } }, { "code": "H330.14", "description": "Pollen asthma", "attributes": { "type": "any" } }, { "code": "H330z00", "description": "Extrinsic asthma NOS", "attributes": { "type": "any" } }, { "code": "H331.00", "description": "Intrinsic asthma", "attributes": { "type": "any" } }, { "code": "H331000", "description": "Intrinsic asthma without status asthmaticus", "attributes": { "type": "any" } }, { "code": "H33..11", "description": "Bronchial asthma", "attributes": { "type": "any" } }, { "code": "H331100", "description": "Intrinsic asthma with status asthmaticus", "attributes": { "type": "any" } }, { "code": "H331.11", "description": "Late onset asthma", "attributes": { "type": "any" } }, { "code": "H331111", "description": "Intrinsic asthma with asthma attack", "attributes": { "type": "any" } }, { "code": "H331z00", "description": "Intrinsic asthma NOS", "attributes": { "type": "any" } }, { "code": "H332.00", "description": "Mixed asthma", "attributes": { "type": "any" } }, { "code": "H333.00", "description": "Acute exacerbation of asthma", "attributes": { "type": "any" } }, { "code": "H334.00", "description": "Brittle asthma", "attributes": { "type": "any" } }, { "code": "H335.00", "description": "Chronic asthma with fixed airflow obstruction", "attributes": { "type": "any" } }, { "code": "H33z.00", "description": "Asthma unspecified", "attributes": { "type": "any" } }, { "code": "H33z000", "description": "Status asthmaticus NOS", "attributes": { "type": "any" } }, { "code": "H33z011", "description": "Severe asthma attack", "attributes": { "type": "any" } }, { "code": "H33z100", "description": "Asthma attack", "attributes": { "type": "any" } }, { "code": "H33z.11", "description": "Hyperreactive airways disease", "attributes": { "type": "any" } }, { "code": "H33z111", "description": "Asthma attack NOS", "attributes": { "type": "any" } }, { "code": "H33z200", "description": "Late-onset asthma", "attributes": { "type": "any" } }, { "code": "H33zz00", "description": "Asthma NOS", "attributes": { "type": "any" } }, { "code": "H33zz11", "description": "Exercise induced asthma", "attributes": { "type": "any" } }, { "code": "H33zz12", "description": "Allergic asthma NEC", "attributes": { "type": "any" } }, { "code": "H33zz13", "description": "Allergic bronchitis NEC", "attributes": { "type": "any" } }, { "code": "Ua1AX", "description": "Brittle asthma", "attributes": { "type": "any" } }, { "code": "X1025", "description": "Occupational asthma", "attributes": { "type": "any" } }, { "code": "Xaa7B", "description": "Chronic asthma with fixed airflow obstruction", "attributes": { "type": "any" } }, { "code": "XaIuG", "description": "Asthma confirmed", "attributes": { "type": "any" } }, { "code": "XaKdk", "description": "Work aggravated asthma", "attributes": { "type": "any" } }, { "code": "XE0YR", "description": "Extrinsic asthma without status asthmaticus", "attributes": { "type": "any" } }, { "code": "XE0YS", "description": "Extrinsic asthma with status asthmaticus", "attributes": { "type": "any" } }, { "code": "XE0YU", "description": "Intrinsic asthma with status asthmaticus", "attributes": { "type": "any" } }, { "code": "XE0YV", "description": "Status asthmaticus NOS", "attributes": { "type": "any" } }, { "code": "XE0YW", "description": "Asthma attack", "attributes": { "type": "any" } }, { "code": "XE0YX", "description": "Asthma NOS", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/j4hb-3j92", "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": 9327, "version_name": "Asthma", "version_date": "2026-06-08T20:06:12.981213Z", "is_published": true, "is_latest": true } ] } ]