[ { "phenotype_id": "PH4091", "phenotype_version_id": 9309, "name": "Agranulocytosis", "definition": "Agranulocytosis is a condition in which the absolute neutrophil count (ANC) is less than 100 neutrophils per microlitre of blood. People with this condition are at a very high risk of severe infection.\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": "2026-06-08T20:05:19.573080Z", "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": "2026-06-08T20:05:19.567908Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Agranulocytosis (disorder)", "value": 535834 } ], "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": 9552, "concept_version_id": 17037, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4091", "phenotype_version_id": 9309, "phenotype_name": "Agranulocytosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "1448", "description": "neutropenia/lymphopenia", "attributes": { "type": "any" } } ] }, { "concept_id": 9553, "concept_version_id": 17038, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4091", "phenotype_version_id": 9309, "phenotype_name": "Agranulocytosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "D70", "description": "Agranulocytosis", "attributes": { "type": "any" } } ] }, { "concept_id": 9554, "concept_version_id": 17039, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4091", "phenotype_version_id": 9309, "phenotype_name": "Agranulocytosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "D70", "description": "Agranulocytosis", "attributes": { "type": "any" } } ] }, { "concept_id": 9555, "concept_version_id": 17040, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4091", "phenotype_version_id": 9309, "phenotype_name": "Agranulocytosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "D70", "description": "Agranulocytosis", "attributes": { "type": "any" } } ] }, { "concept_id": 9556, "concept_version_id": 17041, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4091", "phenotype_version_id": 9309, "phenotype_name": "Agranulocytosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "D70", "description": "Agranulocytosis", "attributes": { "type": "any" } } ] }, { "concept_id": 9557, "concept_version_id": 17042, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4091", "phenotype_version_id": 9309, "phenotype_name": "Agranulocytosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "42H2.", "description": "Leucopenia", "attributes": { "type": "any" } }, { "code": "42H2.00", "description": "Leucopenia - low white count", "attributes": { "type": "any" } }, { "code": "42H2.11", "description": "Leucopenia", "attributes": { "type": "any" } }, { "code": "42H4.", "description": "Agranulocytosis", "attributes": { "type": "any" } }, { "code": "42H4.00", "description": "Agranulocytosis", "attributes": { "type": "any" } }, { "code": "42J2.00", "description": "Neutropenia", "attributes": { "type": "any" } }, { "code": "D400.00", "description": "Agranulocytosis", "attributes": { "type": "any" } }, { "code": "D400000", "description": "Idiopathic agranulocytosis", "attributes": { "type": "any" } }, { "code": "D400011", "description": "Idiopathic neutropenia", "attributes": { "type": "any" } }, { "code": "D400100", "description": "Primary splenic neutropenia", "attributes": { "type": "any" } }, { "code": "D400.11", "description": "Kostmann's syndrome", "attributes": { "type": "any" } }, { "code": "D400.12", "description": "Neutropenia", "attributes": { "type": "any" } }, { "code": "D400200", "description": "Agranulocytosis - drug induced", "attributes": { "type": "any" } }, { "code": "D400211", "description": "Neutropenia - drug induced", "attributes": { "type": "any" } }, { "code": "D400312", "description": "Neutropenia due to irradiation", "attributes": { "type": "any" } }, { "code": "D400400", "description": "Agranulocytosis due to infection", "attributes": { "type": "any" } }, { "code": "D400411", "description": "Neutropenia due to infection", "attributes": { "type": "any" } }, { "code": "D400600", "description": "Drug-induced neutropenia", "attributes": { "type": "any" } }, { "code": "D400800", "description": "Acquired neutropenia NEC", "attributes": { "type": "any" } }, { "code": "D400811", "description": "Acquired agranulocytosis NEC", "attributes": { "type": "any" } }, { "code": "D400900", "description": "Cyclical neutropenia", "attributes": { "type": "any" } }, { "code": "D400A00", "description": "Leucopenia", "attributes": { "type": "any" } }, { "code": "D400y00", "description": "Other specified agranulocytosis", "attributes": { "type": "any" } }, { "code": "D400z00", "description": "Agranulocytosis NOS", "attributes": { "type": "any" } }, { "code": "XE14G", "description": "Acquired neutropenia NEC", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/etwm-yq81", "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": 9309, "version_name": "Agranulocytosis", "version_date": "2026-06-08T20:05:19.584258Z", "is_published": true, "is_latest": true } ] } ]