[ { "phenotype_id": "PH4201", "phenotype_version_id": 9419, "name": "Hypertrophic Cardiomyopathy", "definition": "Hypertrophic cardiomyopathy (HCM) is an inherited disease of tje heart muscle, where the muscle wall of the heart becomes thickened.\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": "2026-06-08T20:11:11.848507Z", "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": "2026-06-08T20:11:11.842284Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Hypertrophic cardiomyopathy (disorder)", "value": 126757 } ], "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 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 10256, "concept_version_id": 17741, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4201", "phenotype_version_id": 9419, "phenotype_name": "Hypertrophic Cardiomyopathy", "code_attribute_header": [ "type" ], "codes": [ { "code": "1588", "description": "hypertrophic cardiomyopathy (hcm / hocm)", "attributes": { "type": "any" } } ] }, { "concept_id": 10257, "concept_version_id": 17742, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4201", "phenotype_version_id": 9419, "phenotype_name": "Hypertrophic Cardiomyopathy", "code_attribute_header": [ "type" ], "codes": [ { "code": "I42.1", "description": "Obstructive hypertrophic cardiomyopathy", "attributes": { "type": "any" } }, { "code": "I42.2", "description": "Other hypertrophic cardiomyopathy", "attributes": { "type": "any" } } ] }, { "concept_id": 10258, "concept_version_id": 17743, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4201", "phenotype_version_id": 9419, "phenotype_name": "Hypertrophic Cardiomyopathy", "code_attribute_header": [ "type" ], "codes": [ { "code": "I42.1", "description": "Obstructive hypertrophic cardiomyopathy", "attributes": { "type": "any" } }, { "code": "I42.2", "description": "Other hypertrophic cardiomyopathy", "attributes": { "type": "any" } } ] }, { "concept_id": 10259, "concept_version_id": 17744, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4201", "phenotype_version_id": 9419, "phenotype_name": "Hypertrophic Cardiomyopathy", "code_attribute_header": [ "type" ], "codes": [ { "code": "I42.1", "description": "Obstructive hypertrophic cardiomyopathy", "attributes": { "type": "any" } }, { "code": "I42.2", "description": "Other hypertrophic cardiomyopathy", "attributes": { "type": "any" } } ] }, { "concept_id": 10260, "concept_version_id": 17745, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4201", "phenotype_version_id": 9419, "phenotype_name": "Hypertrophic Cardiomyopathy", "code_attribute_header": [ "type" ], "codes": [ { "code": "I42.1", "description": "Obstructive hypertrophic cardiomyopathy", "attributes": { "type": "any" } }, { "code": "I42.2", "description": "Other hypertrophic cardiomyopathy", "attributes": { "type": "any" } } ] }, { "concept_id": 10261, "concept_version_id": 17746, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4201", "phenotype_version_id": 9419, "phenotype_name": "Hypertrophic Cardiomyopathy", "code_attribute_header": [ "type" ], "codes": [ { "code": "G551.00", "description": "Hypertrophic obstructive cardiomyopathy", "attributes": { "type": "any" } }, { "code": "G554300", "description": "Hypertrophic non-obstructive cardiomyopathy", "attributes": { "type": "any" } }, { "code": "Gyu5M00", "description": "[X]Other hypertrophic cardiomyopathy", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/e86s-p602", "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": 9419, "version_name": "Hypertrophic Cardiomyopathy", "version_date": "2026-06-08T20:11:11.858946Z", "is_published": true, "is_latest": true } ] } ]