[ { "phenotype_id": "PH4346", "phenotype_version_id": 9564, "name": "Secondary or other Thrombocytopaenia", "definition": "Excess platelets in the bloodstream that develops as a result of another disorder and rarely leads to excessive blood clotting or bleeding\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": "2026-06-08T20:18:54.231519Z", "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": "2026-06-08T20:18:54.225909Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Secondary thrombocytopenia (disorder)", "value": 13862 } ], "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": 11138, "concept_version_id": 18623, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4346", "phenotype_version_id": 9564, "phenotype_name": "Secondary or other Thrombocytopaenia", "code_attribute_header": [ "type" ], "codes": [ { "code": "D69.5", "description": "Secondary thrombocytopenia", "attributes": { "type": "any" } }, { "code": "D69.6", "description": "Thrombocytopenia, unspecified", "attributes": { "type": "any" } }, { "code": "D82.0", "description": "Wiskott-Aldrich syndrome", "attributes": { "type": "any" } }, { "code": "M31.1", "description": "Thrombotic microangiopathy", "attributes": { "type": "any" } } ] }, { "concept_id": 11139, "concept_version_id": 18624, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4346", "phenotype_version_id": 9564, "phenotype_name": "Secondary or other Thrombocytopaenia", "code_attribute_header": [ "type" ], "codes": [ { "code": "D69.5", "description": "Secondary thrombocytopenia", "attributes": { "type": "any" } }, { "code": "D69.6", "description": "Thrombocytopenia, unspecified", "attributes": { "type": "any" } }, { "code": "D82.0", "description": "Wiskott-Aldrich syndrome", "attributes": { "type": "any" } }, { "code": "M31.1", "description": "Thrombotic microangiopathy", "attributes": { "type": "any" } } ] }, { "concept_id": 11140, "concept_version_id": 18625, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4346", "phenotype_version_id": 9564, "phenotype_name": "Secondary or other Thrombocytopaenia", "code_attribute_header": [ "type" ], "codes": [ { "code": "D69.5", "description": "Secondary thrombocytopenia", "attributes": { "type": "any" } }, { "code": "D69.6", "description": "Thrombocytopenia, unspecified", "attributes": { "type": "any" } }, { "code": "D82.0", "description": "Wiskott-Aldrich syndrome", "attributes": { "type": "any" } }, { "code": "M31.1", "description": "Thrombotic microangiopathy", "attributes": { "type": "any" } } ] }, { "concept_id": 11141, "concept_version_id": 18626, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4346", "phenotype_version_id": 9564, "phenotype_name": "Secondary or other Thrombocytopaenia", "code_attribute_header": [ "type" ], "codes": [ { "code": "D69.5", "description": "Secondary thrombocytopenia", "attributes": { "type": "any" } }, { "code": "D69.6", "description": "Thrombocytopenia, unspecified", "attributes": { "type": "any" } }, { "code": "D82.0", "description": "Wiskott-Aldrich syndrome", "attributes": { "type": "any" } }, { "code": "M31.1", "description": "Thrombotic microangiopathy", "attributes": { "type": "any" } } ] }, { "concept_id": 11142, "concept_version_id": 18627, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4346", "phenotype_version_id": 9564, "phenotype_name": "Secondary or other Thrombocytopaenia", "code_attribute_header": [ "type" ], "codes": [ { "code": "42P2.00", "description": "Thrombocytopenia", "attributes": { "type": "any" } }, { "code": "42P8.00", "description": "Heparin induced thrombocytopenia screening test", "attributes": { "type": "any" } }, { "code": "C391200", "description": "Wiskott - Aldrich syndrome", "attributes": { "type": "any" } }, { "code": "C391211", "description": "Thrombocytopenic eczema with immunodeficiency", "attributes": { "type": "any" } }, { "code": "D314.00", "description": "Secondary thrombocytopenia", "attributes": { "type": "any" } }, { "code": "D314100", "description": "Thrombocytopenia due to drugs", "attributes": { "type": "any" } }, { "code": "D314200", "description": "Thrombocytopenia due to extracorporeal circulation of blood", "attributes": { "type": "any" } }, { "code": "D314300", "description": "Heparin-induced thrombocytopenia", "attributes": { "type": "any" } }, { "code": "D314y00", "description": "Other specified secondary thrombocytopenia", "attributes": { "type": "any" } }, { "code": "D314z00", "description": "Secondary thrombocytopenia NOS", "attributes": { "type": "any" } }, { "code": "D315.00", "description": "Thrombocytopenia NOS", "attributes": { "type": "any" } }, { "code": "G756.", "description": "Thrombotic thrombocytopenic purpura", "attributes": { "type": "any" } }, { "code": "G756100", "description": "Thrombotic thrombocytopenic purpura", "attributes": { "type": "any" } }, { "code": "Xa36j", "description": "Heparin-induced thrombocytopenia", "attributes": { "type": "any" } }, { "code": "XaJJu", "description": "Heparin induced thrombocytopenia screening test", "attributes": { "type": "any" } }, { "code": "XE149", "description": "Secondary thrombocytopenia NOS", "attributes": { "type": "any" } }, { "code": "XE24o", "description": "Thrombocytopenia", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/vtpf-0p36", "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": 9564, "version_name": "Secondary or other Thrombocytopaenia", "version_date": "2026-06-08T20:18:54.241641Z", "is_published": true, "is_latest": true } ] } ]