[ { "phenotype_id": "PH4193", "phenotype_version_id": 9411, "name": "Haemangioma, any site", "definition": "A benign vascular lesion characterized by the formation of capillary\\-sized or cavernous vascular channels.\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": "2026-06-08T20:10:42.810654Z", "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": "2026-06-08T20:10:42.805112Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Hemangioma (disorder)", "value": 276750 } ], "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 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 10208, "concept_version_id": 17693, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4193", "phenotype_version_id": 9411, "phenotype_name": "Haemangioma, any site", "code_attribute_header": [ "type" ], "codes": [ { "code": "D18.0", "description": "Haemangioma, any site", "attributes": { "type": "any" } } ] }, { "concept_id": 10209, "concept_version_id": 17694, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4193", "phenotype_version_id": 9411, "phenotype_name": "Haemangioma, any site", "code_attribute_header": [ "type" ], "codes": [ { "code": "D18.0", "description": "Haemangioma, any site", "attributes": { "type": "any" } } ] }, { "concept_id": 10210, "concept_version_id": 17695, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4193", "phenotype_version_id": 9411, "phenotype_name": "Haemangioma, any site", "code_attribute_header": [ "type" ], "codes": [ { "code": "D18.0", "description": "Haemangioma, any site", "attributes": { "type": "any" } } ] }, { "concept_id": 10211, "concept_version_id": 17696, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4193", "phenotype_version_id": 9411, "phenotype_name": "Haemangioma, any site", "code_attribute_header": [ "type" ], "codes": [ { "code": "D18.0", "description": "Haemangioma, any site", "attributes": { "type": "any" } } ] }, { "concept_id": 10212, "concept_version_id": 17697, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4193", "phenotype_version_id": 9411, "phenotype_name": "Haemangioma, any site", "code_attribute_header": [ "type" ], "codes": [ { "code": "2F25.00", "description": "O/E - capilliary naevi present", "attributes": { "type": "any" } }, { "code": "7A6G600", "description": "Excision of haemangioma", "attributes": { "type": "any" } }, { "code": "B7J..00", "description": "Haemangiomas and lymphangiomas of any site", "attributes": { "type": "any" } }, { "code": "B7J0.00", "description": "Haemangioma", "attributes": { "type": "any" } }, { "code": "B7J0000", "description": "Haemangioma of unspecified site", "attributes": { "type": "any" } }, { "code": "B7J0100", "description": "Haemangioma of skin and subcutaneous tissue", "attributes": { "type": "any" } }, { "code": "B7J0.11", "description": "Glomus tumour", "attributes": { "type": "any" } }, { "code": "B7J0111", "description": "Skin haemangioma", "attributes": { "type": "any" } }, { "code": "B7J0112", "description": "Subcutaneous haemangioma", "attributes": { "type": "any" } }, { "code": "B7J0200", "description": "Haemangioma of intracranial structures", "attributes": { "type": "any" } }, { "code": "B7J0300", "description": "Haemangioma of retina", "attributes": { "type": "any" } }, { "code": "B7J0400", "description": "Haemangioma of intra-abdominal structures", "attributes": { "type": "any" } }, { "code": "B7J0z00", "description": "Haemangioma NOS", "attributes": { "type": "any" } }, { "code": "B7Jz.00", "description": "Haemangioma or lymphangioma NOS", "attributes": { "type": "any" } }, { "code": "BBd7.00", "description": "[M]Haemangioblastic meningioma", "attributes": { "type": "any" } }, { "code": "BBd8.00", "description": "[M]Haemangiopericytic meningioma", "attributes": { "type": "any" } }, { "code": "BBDC.00", "description": "[M]Glomus tumour", "attributes": { "type": "any" } }, { "code": "BBGK.13", "description": "[M]Sclerosing haemangioma", "attributes": { "type": "any" } }, { "code": "BBT0.00", "description": "[M]Haemangioma NOS", "attributes": { "type": "any" } }, { "code": "BBT..11", "description": "[M]Haemangiomatous tumours", "attributes": { "type": "any" } }, { "code": "BBT2.00", "description": "[M]Cavernous haemangioma", "attributes": { "type": "any" } }, { "code": "BBT3.00", "description": "[M]Venous haemangioma", "attributes": { "type": "any" } }, { "code": "BBT4.00", "description": "[M]Racemose haemangioma", "attributes": { "type": "any" } }, { "code": "BBT4.11", "description": "[M]Arteriovenous haemangioma", "attributes": { "type": "any" } }, { "code": "BBT7000", "description": "[M]Haemangioendothelioma, benign", "attributes": { "type": "any" } }, { "code": "BBT8.00", "description": "[M]Capillary haemangioma", "attributes": { "type": "any" } }, { "code": "BBT8.11", "description": "[M]Haemangioma simplex", "attributes": { "type": "any" } }, { "code": "BBT8.12", "description": "[M]Infantile haemangioma", "attributes": { "type": "any" } }, { "code": "BBT8.13", "description": "[M]Juvenile haemangioma", "attributes": { "type": "any" } }, { "code": "BBT8.14", "description": "[M]Plexiform haemangioma", "attributes": { "type": "any" } }, { "code": "BBT9.00", "description": "[M]Intramuscular haemangioma", "attributes": { "type": "any" } }, { "code": "BBTC.00", "description": "[M]Verrucous keratotic haemangioma", "attributes": { "type": "any" } }, { "code": "BBTD000", "description": "[M]Haemangiopericytoma, benign", "attributes": { "type": "any" } }, { "code": "BBTF.00", "description": "[M]Haemangioblastoma", "attributes": { "type": "any" } }, { "code": "BBTG.00", "description": "[M]Epithelioid haemangioma", "attributes": { "type": "any" } }, { "code": "BBTH.00", "description": "[M]Histiocytoid haemangioma", "attributes": { "type": "any" } }, { "code": "G771200", "description": "Campbell de Morgan's spots", "attributes": { "type": "any" } }, { "code": "PG42000", "description": "Multiple enchondromata with haemangioma", "attributes": { "type": "any" } }, { "code": "PG42011", "description": "Kast's syndrome", "attributes": { "type": "any" } }, { "code": "PG42012", "description": "Maffuci's syndrome", "attributes": { "type": "any" } }, { "code": "PH31200", "description": "Strawberry naevus", "attributes": { "type": "any" } }, { "code": "XaC0g", "description": "Excision of haemangioma", "attributes": { "type": "any" } }, { "code": "XE1wE", "description": "Haemangioma", "attributes": { "type": "any" } }, { "code": "XE2vc", "description": "Haemangiomas and lymphangiomas of any site", "attributes": { "type": "any" } }, { "code": "XE2vd", "description": "Haemangioma of skin and subcutaneous tissue", "attributes": { "type": "any" } } ] }, { "concept_id": 10213, "concept_version_id": 17698, "concept_name": "Type of cancer: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4193", "phenotype_version_id": 9411, "phenotype_name": "Haemangioma, any site", "code_attribute_header": [ "type" ], "codes": [ { "code": "D18.0", "description": "Haemangioma, any site", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/taxs-mp66", "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": 9411, "version_name": "Haemangioma, any site", "version_date": "2026-06-08T20:10:42.820490Z", "is_published": true, "is_latest": true } ] } ]