[ { "phenotype_id": "PH4168", "phenotype_version_id": 9386, "name": "Ear and Upper Respiratory Tract Infections", "definition": "Ear and Upper Respiratory Tract Infections\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": "2026-06-08T20:09:23.420978Z", "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": "2026-06-08T20:09:23.415220Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Upper respiratory infection (disorder)", "value": 386591 } ], "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 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 10049, "concept_version_id": 17534, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4168", "phenotype_version_id": 9386, "phenotype_name": "Ear and Upper Respiratory Tract Infections", "code_attribute_header": [ "type" ], "codes": [ { "code": "1418", "description": "chronic laryngitis", "attributes": { "type": "any" } }, { "code": "1567", "description": "infectious mononucleosis / glandular fever / epstein barr virus (ebv)", "attributes": { "type": "any" } }, { "code": "1574", "description": "diphtheria", "attributes": { "type": "any" } }, { "code": "1598", "description": "tonsiltis", "attributes": { "type": "any" } } ] }, { "concept_id": 10050, "concept_version_id": 17535, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4168", "phenotype_version_id": 9386, "phenotype_name": "Ear and Upper Respiratory Tract Infections", "code_attribute_header": [ "type" ], "codes": [ { "code": "A18.6", "description": "Tuberculosis of ear", "attributes": { "type": "any" } }, { "code": "A36.0", "description": "Pharyngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A36.1", "description": "Nasopharyngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A36.2", "description": "Laryngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A54.5", "description": "Gonococcal pharyngitis", "attributes": { "type": "any" } }, { "code": "A56.4", "description": "Chlamydial infection of pharynx", "attributes": { "type": "any" } }, { "code": "B05.3", "description": "Measles complicated by otitis media", "attributes": { "type": "any" } }, { "code": "B27", "description": "Infectious mononucleosis", "attributes": { "type": "any" } }, { "code": "B44.2", "description": "Tonsillar aspergillosis", "attributes": { "type": "any" } }, { "code": "B87.3", "description": "Nasopharyngeal myiasis", "attributes": { "type": "any" } }, { "code": "B87.4", "description": "Aural myiasis", "attributes": { "type": "any" } }, { "code": "H60", "description": "Otitis externa", "attributes": { "type": "any" } }, { "code": "H62.0", "description": "Otitis externa in bacterial diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.1", "description": "Otitis externa in viral diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.2", "description": "Otitis externa in mycoses", "attributes": { "type": "any" } }, { "code": "H62.3", "description": "Otitis externa in other infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.4", "description": "Otitis externa in other diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H65", "description": "Nonsuppurative otitis media", "attributes": { "type": "any" } }, { "code": "H66", "description": "Suppurative and unspecified otitis media", "attributes": { "type": "any" } }, { "code": "H67", "description": "Otitis media in diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H70", "description": "Mastoiditis and related conditions", "attributes": { "type": "any" } }, { "code": "H73.0", "description": "Acute myringitis", "attributes": { "type": "any" } }, { "code": "H73.1", "description": "Chronic myringitis", "attributes": { "type": "any" } }, { "code": "H75.0", "description": "Mastoiditis in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "J00", "description": "Acute nasopharyngitis [common cold]", "attributes": { "type": "any" } }, { "code": "J01", "description": "Acute sinusitis", "attributes": { "type": "any" } }, { "code": "J02", "description": "Acute pharyngitis", "attributes": { "type": "any" } }, { "code": "J03", "description": "Acute tonsillitis", "attributes": { "type": "any" } }, { "code": "J04", "description": "Acute laryngitis and tracheitis", "attributes": { "type": "any" } }, { "code": "J05", "description": "Acute obstructive laryngitis [croup] and epiglottitis", "attributes": { "type": "any" } }, { "code": "J06", "description": "Acute upper respiratory infections of multiple and unspecified sites", "attributes": { "type": "any" } }, { "code": "J34.0", "description": "Abscess, furuncle and carbuncle of nose", "attributes": { "type": "any" } }, { "code": "J36", "description": "Peritonsillar abscess", "attributes": { "type": "any" } }, { "code": "J37", "description": "Chronic laryngitis and laryngotracheitis", "attributes": { "type": "any" } }, { "code": "J39.0", "description": "Retropharyngeal and parapharyngeal abscess", "attributes": { "type": "any" } }, { "code": "J39.1", "description": "Other abscess of pharynx", "attributes": { "type": "any" } } ] }, { "concept_id": 10051, "concept_version_id": 17536, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4168", "phenotype_version_id": 9386, "phenotype_name": "Ear and Upper Respiratory Tract Infections", "code_attribute_header": [ "type" ], "codes": [ { "code": "A18.6", "description": "Tuberculosis of ear", "attributes": { "type": "any" } }, { "code": "A36.0", "description": "Pharyngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A36.1", "description": "Nasopharyngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A36.2", "description": "Laryngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A54.5", "description": "Gonococcal pharyngitis", "attributes": { "type": "any" } }, { "code": "A56.4", "description": "Chlamydial infection of pharynx", "attributes": { "type": "any" } }, { "code": "B05.3", "description": "Measles complicated by otitis media", "attributes": { "type": "any" } }, { "code": "B27", "description": "Infectious mononucleosis", "attributes": { "type": "any" } }, { "code": "B44.2", "description": "Tonsillar aspergillosis", "attributes": { "type": "any" } }, { "code": "B87.3", "description": "Nasopharyngeal myiasis", "attributes": { "type": "any" } }, { "code": "B87.4", "description": "Aural myiasis", "attributes": { "type": "any" } }, { "code": "H60", "description": "Otitis externa", "attributes": { "type": "any" } }, { "code": "H62.0", "description": "Otitis externa in bacterial diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.1", "description": "Otitis externa in viral diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.2", "description": "Otitis externa in mycoses", "attributes": { "type": "any" } }, { "code": "H62.3", "description": "Otitis externa in other infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.4", "description": "Otitis externa in other diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H65", "description": "Nonsuppurative otitis media", "attributes": { "type": "any" } }, { "code": "H66", "description": "Suppurative and unspecified otitis media", "attributes": { "type": "any" } }, { "code": "H67", "description": "Otitis media in diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H70", "description": "Mastoiditis and related conditions", "attributes": { "type": "any" } }, { "code": "H73.0", "description": "Acute myringitis", "attributes": { "type": "any" } }, { "code": "H73.1", "description": "Chronic myringitis", "attributes": { "type": "any" } }, { "code": "H75.0", "description": "Mastoiditis in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "J00", "description": "Acute nasopharyngitis [common cold]", "attributes": { "type": "any" } }, { "code": "J01", "description": "Acute sinusitis", "attributes": { "type": "any" } }, { "code": "J02", "description": "Acute pharyngitis", "attributes": { "type": "any" } }, { "code": "J03", "description": "Acute tonsillitis", "attributes": { "type": "any" } }, { "code": "J04", "description": "Acute laryngitis and tracheitis", "attributes": { "type": "any" } }, { "code": "J05", "description": "Acute obstructive laryngitis [croup] and epiglottitis", "attributes": { "type": "any" } }, { "code": "J06", "description": "Acute upper respiratory infections of multiple and unspecified sites", "attributes": { "type": "any" } }, { "code": "J34.0", "description": "Abscess, furuncle and carbuncle of nose", "attributes": { "type": "any" } }, { "code": "J36", "description": "Peritonsillar abscess", "attributes": { "type": "any" } }, { "code": "J37", "description": "Chronic laryngitis and laryngotracheitis", "attributes": { "type": "any" } }, { "code": "J39.0", "description": "Retropharyngeal and parapharyngeal abscess", "attributes": { "type": "any" } }, { "code": "J39.1", "description": "Other abscess of pharynx", "attributes": { "type": "any" } } ] }, { "concept_id": 10052, "concept_version_id": 17537, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4168", "phenotype_version_id": 9386, "phenotype_name": "Ear and Upper Respiratory Tract Infections", "code_attribute_header": [ "type" ], "codes": [ { "code": "A18.6", "description": "Tuberculosis of ear", "attributes": { "type": "any" } }, { "code": "A36.0", "description": "Pharyngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A36.1", "description": "Nasopharyngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A36.2", "description": "Laryngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A54.5", "description": "Gonococcal pharyngitis", "attributes": { "type": "any" } }, { "code": "A56.4", "description": "Chlamydial infection of pharynx", "attributes": { "type": "any" } }, { "code": "B05.3", "description": "Measles complicated by otitis media", "attributes": { "type": "any" } }, { "code": "B27", "description": "Infectious mononucleosis", "attributes": { "type": "any" } }, { "code": "B44.2", "description": "Tonsillar aspergillosis", "attributes": { "type": "any" } }, { "code": "B87.3", "description": "Nasopharyngeal myiasis", "attributes": { "type": "any" } }, { "code": "B87.4", "description": "Aural myiasis", "attributes": { "type": "any" } }, { "code": "H60", "description": "Otitis externa", "attributes": { "type": "any" } }, { "code": "H62.0", "description": "Otitis externa in bacterial diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.1", "description": "Otitis externa in viral diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.2", "description": "Otitis externa in mycoses", "attributes": { "type": "any" } }, { "code": "H62.3", "description": "Otitis externa in other infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.4", "description": "Otitis externa in other diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H65", "description": "Nonsuppurative otitis media", "attributes": { "type": "any" } }, { "code": "H66", "description": "Suppurative and unspecified otitis media", "attributes": { "type": "any" } }, { "code": "H67", "description": "Otitis media in diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H70", "description": "Mastoiditis and related conditions", "attributes": { "type": "any" } }, { "code": "H73.0", "description": "Acute myringitis", "attributes": { "type": "any" } }, { "code": "H73.1", "description": "Chronic myringitis", "attributes": { "type": "any" } }, { "code": "H75.0", "description": "Mastoiditis in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "J00", "description": "Acute nasopharyngitis [common cold]", "attributes": { "type": "any" } }, { "code": "J01", "description": "Acute sinusitis", "attributes": { "type": "any" } }, { "code": "J02", "description": "Acute pharyngitis", "attributes": { "type": "any" } }, { "code": "J03", "description": "Acute tonsillitis", "attributes": { "type": "any" } }, { "code": "J04", "description": "Acute laryngitis and tracheitis", "attributes": { "type": "any" } }, { "code": "J05", "description": "Acute obstructive laryngitis [croup] and epiglottitis", "attributes": { "type": "any" } }, { "code": "J06", "description": "Acute upper respiratory infections of multiple and unspecified sites", "attributes": { "type": "any" } }, { "code": "J34.0", "description": "Abscess, furuncle and carbuncle of nose", "attributes": { "type": "any" } }, { "code": "J36", "description": "Peritonsillar abscess", "attributes": { "type": "any" } }, { "code": "J37", "description": "Chronic laryngitis and laryngotracheitis", "attributes": { "type": "any" } }, { "code": "J39.0", "description": "Retropharyngeal and parapharyngeal abscess", "attributes": { "type": "any" } }, { "code": "J39.1", "description": "Other abscess of pharynx", "attributes": { "type": "any" } } ] }, { "concept_id": 10053, "concept_version_id": 17538, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4168", "phenotype_version_id": 9386, "phenotype_name": "Ear and Upper Respiratory Tract Infections", "code_attribute_header": [ "type" ], "codes": [ { "code": "A18.6", "description": "Tuberculosis of ear", "attributes": { "type": "any" } }, { "code": "A36.0", "description": "Pharyngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A36.1", "description": "Nasopharyngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A36.2", "description": "Laryngeal diphtheria", "attributes": { "type": "any" } }, { "code": "A54.5", "description": "Gonococcal pharyngitis", "attributes": { "type": "any" } }, { "code": "A56.4", "description": "Chlamydial infection of pharynx", "attributes": { "type": "any" } }, { "code": "B05.3", "description": "Measles complicated by otitis media", "attributes": { "type": "any" } }, { "code": "B27", "description": "Infectious mononucleosis", "attributes": { "type": "any" } }, { "code": "B44.2", "description": "Tonsillar aspergillosis", "attributes": { "type": "any" } }, { "code": "B87.3", "description": "Nasopharyngeal myiasis", "attributes": { "type": "any" } }, { "code": "B87.4", "description": "Aural myiasis", "attributes": { "type": "any" } }, { "code": "H60", "description": "Otitis externa", "attributes": { "type": "any" } }, { "code": "H62.0", "description": "Otitis externa in bacterial diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.1", "description": "Otitis externa in viral diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.2", "description": "Otitis externa in mycoses", "attributes": { "type": "any" } }, { "code": "H62.3", "description": "Otitis externa in other infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H62.4", "description": "Otitis externa in other diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H65", "description": "Nonsuppurative otitis media", "attributes": { "type": "any" } }, { "code": "H66", "description": "Suppurative and unspecified otitis media", "attributes": { "type": "any" } }, { "code": "H67", "description": "Otitis media in diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "H70", "description": "Mastoiditis and related conditions", "attributes": { "type": "any" } }, { "code": "H73.0", "description": "Acute myringitis", "attributes": { "type": "any" } }, { "code": "H73.1", "description": "Chronic myringitis", "attributes": { "type": "any" } }, { "code": "H75.0", "description": "Mastoiditis in infectious and parasitic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "J00", "description": "Acute nasopharyngitis [common cold]", "attributes": { "type": "any" } }, { "code": "J01", "description": "Acute sinusitis", "attributes": { "type": "any" } }, { "code": "J02", "description": "Acute pharyngitis", "attributes": { "type": "any" } }, { "code": "J03", "description": "Acute tonsillitis", "attributes": { "type": "any" } }, { "code": "J04", "description": "Acute laryngitis and tracheitis", "attributes": { "type": "any" } }, { "code": "J05", "description": "Acute obstructive laryngitis [croup] and epiglottitis", "attributes": { "type": "any" } }, { "code": "J06", "description": "Acute upper respiratory infections of multiple and unspecified sites", "attributes": { "type": "any" } }, { "code": "J34.0", "description": "Abscess, furuncle and carbuncle of nose", "attributes": { "type": "any" } }, { "code": "J36", "description": "Peritonsillar abscess", "attributes": { "type": "any" } }, { "code": "J37", "description": "Chronic laryngitis and laryngotracheitis", "attributes": { "type": "any" } }, { "code": "J39.0", "description": "Retropharyngeal and parapharyngeal abscess", "attributes": { "type": "any" } }, { "code": "J39.1", "description": "Other abscess of pharynx", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/s38v-2p68", "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": 9386, "version_name": "Ear and Upper Respiratory Tract Infections", "version_date": "2026-06-08T20:09:23.433499Z", "is_published": true, "is_latest": true } ] } ]