[ { "phenotype_id": "PH4257", "phenotype_version_id": 9475, "name": "Other anaemias", "definition": "UKB 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": "2026-06-08T20:14:03.413629Z", "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": "2026-06-08T20:14:03.408068Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": null, "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": 10585, "concept_version_id": 18070, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4257", "phenotype_version_id": 9475, "phenotype_name": "Other anaemias", "code_attribute_header": [ "type" ], "codes": [ { "code": "D53", "description": "Other nutritional anaemias", "attributes": { "type": "any" } }, { "code": "D62", "description": "Acute posthaemorrhagic anaemia", "attributes": { "type": "any" } }, { "code": "D63", "description": "Anaemia in chronic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "D64", "description": "Other anaemias", "attributes": { "type": "any" } } ] }, { "concept_id": 10586, "concept_version_id": 18071, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4257", "phenotype_version_id": 9475, "phenotype_name": "Other anaemias", "code_attribute_header": [ "type" ], "codes": [ { "code": "D53", "description": "Other nutritional anaemias", "attributes": { "type": "any" } }, { "code": "D62", "description": "Acute posthaemorrhagic anaemia", "attributes": { "type": "any" } }, { "code": "D63", "description": "Anaemia in chronic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "D64", "description": "Other anaemias", "attributes": { "type": "any" } } ] }, { "concept_id": 10587, "concept_version_id": 18072, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4257", "phenotype_version_id": 9475, "phenotype_name": "Other anaemias", "code_attribute_header": [ "type" ], "codes": [ { "code": "D53", "description": "Other nutritional anaemias", "attributes": { "type": "any" } }, { "code": "D62", "description": "Acute posthaemorrhagic anaemia", "attributes": { "type": "any" } }, { "code": "D63", "description": "Anaemia in chronic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "D64", "description": "Other anaemias", "attributes": { "type": "any" } } ] }, { "concept_id": 10588, "concept_version_id": 18073, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4257", "phenotype_version_id": 9475, "phenotype_name": "Other anaemias", "code_attribute_header": [ "type" ], "codes": [ { "code": "D53", "description": "Other nutritional anaemias", "attributes": { "type": "any" } }, { "code": "D62", "description": "Acute posthaemorrhagic anaemia", "attributes": { "type": "any" } }, { "code": "D63", "description": "Anaemia in chronic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "D64", "description": "Other anaemias", "attributes": { "type": "any" } } ] }, { "concept_id": 10589, "concept_version_id": 18074, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4257", "phenotype_version_id": 9475, "phenotype_name": "Other anaemias", "code_attribute_header": [ "type" ], "codes": [ { "code": "145..11", "description": "H/O: anaemia", "attributes": { "type": "prevalent" } }, { "code": "1454.00", "description": "H/O: anaemia NOS", "attributes": { "type": "prevalent" } }, { "code": "4234.00", "description": "Haemoglobin very low", "attributes": { "type": "any" } }, { "code": "4235.00", "description": "Haemoglobin low", "attributes": { "type": "any" } }, { "code": "D0...00", "description": "Deficiency anaemias", "attributes": { "type": "any" } }, { "code": "D00..11", "description": "Hypochromic - microcytic anaemia", "attributes": { "type": "any" } }, { "code": "D00..12", "description": "Microcytic - hypochromic anaemia", "attributes": { "type": "any" } }, { "code": "D00y100", "description": "Microcytic hypochromic anaemia", "attributes": { "type": "any" } }, { "code": "D00z200", "description": "Idiopathic hypochromic anaemia", "attributes": { "type": "any" } }, { "code": "D01..00", "description": "Other deficiency anaemias", "attributes": { "type": "any" } }, { "code": "D01..11", "description": "Megaloblastic anaemia", "attributes": { "type": "any" } }, { "code": "D012112", "description": "Megaloblastic anaemia due to dietary causes", "attributes": { "type": "any" } }, { "code": "D012500", "description": "Macrocytic anaemia unspecified cause", "attributes": { "type": "any" } }, { "code": "D013.00", "description": "Other specified megaloblastic anaemia NEC", "attributes": { "type": "any" } }, { "code": "D013z00", "description": "Other specified megaloblastic anaemia NEC NOS", "attributes": { "type": "any" } }, { "code": "D014.00", "description": "Protein-deficiency anaemia", "attributes": { "type": "any" } }, { "code": "D014000", "description": "Amino-acid deficiency anaemia", "attributes": { "type": "any" } }, { "code": "D014100", "description": "Oroticaciduria", "attributes": { "type": "any" } }, { "code": "D014z00", "description": "Protein-deficiency anaemia NOS", "attributes": { "type": "any" } }, { "code": "D01y.00", "description": "Other specified nutritional deficiency anaemia", "attributes": { "type": "any" } }, { "code": "D01y000", "description": "Vitamin C deficiency anaemia", "attributes": { "type": "any" } }, { "code": "D01y100", "description": "Vitamin E deficiency anaemia", "attributes": { "type": "any" } }, { "code": "D01yy00", "description": "Other specified other nutritional deficiency anaemia", "attributes": { "type": "any" } }, { "code": "D01yz00", "description": "Other specified nutritional deficiency anaemia NOS", "attributes": { "type": "any" } }, { "code": "D01z.00", "description": "Other deficiency anaemias NOS", "attributes": { "type": "any" } }, { "code": "D01z000", "description": "[X]Megaloblastic anaemia NOS", "attributes": { "type": "any" } }, { "code": "D01z.11", "description": "Megaloblastic anaemia NOS", "attributes": { "type": "any" } }, { "code": "D0y..00", "description": "Other specified deficiency anaemias", "attributes": { "type": "any" } }, { "code": "D0z..00", "description": "Deficiency anaemias NOS", "attributes": { "type": "any" } }, { "code": "D2...00", "description": "Aplastic and other anaemias", "attributes": { "type": "any" } }, { "code": "D21..00", "description": "Other and unspecified anaemias", "attributes": { "type": "any" } }, { "code": "D210.00", "description": "Sideroblastic anaemia", "attributes": { "type": "any" } }, { "code": "D210000", "description": "Congenital sideroblastic anaemia", "attributes": { "type": "any" } }, { "code": "D210100", "description": "Acquired sideroblastic anaemia", "attributes": { "type": "any" } }, { "code": "D210200", "description": "Pyridoxine-responsive sideroblastic anaemia", "attributes": { "type": "any" } }, { "code": "D210300", "description": "Secondary sideroblastic anaemia due to disease", "attributes": { "type": "any" } }, { "code": "D210400", "description": "Secondary sideroblastic anaemia due to drugs and toxins", "attributes": { "type": "any" } }, { "code": "D210z00", "description": "Sideroblastic anaemia NOS", "attributes": { "type": "any" } }, { "code": "D211.00", "description": "Acute posthaemorrhagic anaemia", "attributes": { "type": "any" } }, { "code": "D211.11", "description": "Normocytic anaemia following acute bleed", "attributes": { "type": "any" } }, { "code": "D212.00", "description": "Anaemia in neoplastic disease", "attributes": { "type": "any" } }, { "code": "D212000", "description": "Anaemia in ovarian carcinoma", "attributes": { "type": "any" } }, { "code": "D213.00", "description": "Refractory Anaemia", "attributes": { "type": "any" } }, { "code": "D214.00", "description": "Chronic anaemia", "attributes": { "type": "any" } }, { "code": "D215.00", "description": "Anaemia secondary to renal failure", "attributes": { "type": "any" } }, { "code": "D215000", "description": "Anaemia secondary to chronic renal failure", "attributes": { "type": "any" } }, { "code": "D21y.00", "description": "Other specified anaemias", "attributes": { "type": "any" } }, { "code": "D21y000", "description": "Congenital dyshaematopoietic anaemia", "attributes": { "type": "any" } }, { "code": "D21y011", "description": "Congenital dyserythropoietic anaemia", "attributes": { "type": "any" } }, { "code": "D21y012", "description": "Congenital dyserythropoiesis NEC", "attributes": { "type": "any" } }, { "code": "D21y200", "description": "Leukoerythroblastic anaemia", "attributes": { "type": "any" } }, { "code": "D21y300", "description": "Hereditary erythroblast multinuclearity + positive acid test", "attributes": { "type": "any" } }, { "code": "D21yy00", "description": "Other specified other anaemia", "attributes": { "type": "any" } }, { "code": "D21yz00", "description": "Other specified anaemia NOS", "attributes": { "type": "any" } }, { "code": "D21z.00", "description": "Anaemia unspecified", "attributes": { "type": "any" } }, { "code": "D21z.11", "description": "Secondary anaemia NOS", "attributes": { "type": "any" } }, { "code": "D21z.12", "description": "Normocytic anaemia due to unspecified cause", "attributes": { "type": "any" } }, { "code": "D21z.13", "description": "Macrocytic anaemia of unspecified cause", "attributes": { "type": "any" } }, { "code": "D2y..", "description": "Other specified anaemias", "attributes": { "type": "any" } }, { "code": "D2y..00", "description": "Other specified anaemias", "attributes": { "type": "any" } }, { "code": "D2z..00", "description": "Other anaemias NOS", "attributes": { "type": "any" } }, { "code": "Dyu0.00", "description": "[X]Nutritional anaemias", "attributes": { "type": "any" } }, { "code": "Dyu2200", "description": "[X]Anaemia in other chronic diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "Dyu2400", "description": "[X]Other specified anaemias", "attributes": { "type": "any" } }, { "code": "Q455.00", "description": "Congenital anaemia", "attributes": { "type": "any" } }, { "code": "Q455000", "description": "Congenital anaemia from fetal blood loss", "attributes": { "type": "any" } }, { "code": "Q456.00", "description": "Anaemia of prematurity", "attributes": { "type": "any" } }, { "code": "Qyu5C00", "description": "[X]Other congenital anaemias, not elsewhere classified", "attributes": { "type": "any" } }, { "code": "XaBDS", "description": "Anaemia in ovarian carcinoma", "attributes": { "type": "any" } }, { "code": "XaCLx", "description": "Anaemia secondary to renal failure", "attributes": { "type": "any" } }, { "code": "XaCLy", "description": "Anaemia secondary to chronic renal failure", "attributes": { "type": "any" } }, { "code": "XE0q5", "description": "H/O: blood disorder", "attributes": { "type": "prevalent" } }, { "code": "XE13b", "description": "Deficiency anaemias", "attributes": { "type": "any" } }, { "code": "XE13f", "description": "Other deficiency anaemias", "attributes": { "type": "any" } }, { "code": "XE13j", "description": "Other deficiency anaemias NOS", "attributes": { "type": "any" } }, { "code": "XE13x", "description": "Acute posthaemorrhagic anaemia", "attributes": { "type": "any" } }, { "code": "XE140", "description": "Anaemia unspecified", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/yy3c-1x04", "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": 9475, "version_name": "Other anaemias", "version_date": "2026-06-08T20:14:03.424043Z", "is_published": true, "is_latest": true } ] } ]