[ { "phenotype_id": "PH4182", "phenotype_version_id": 9400, "name": "Female infertility", "definition": "Diminished or absent ability of a female to achieve conception.\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": "2026-06-08T20:10:07.335464Z", "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": "2026-06-08T20:10:07.327982Z", "sex": [ { "name": "Female", "value": "2" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Female infertility (disorder)", "value": 73 } ], "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": 10130, "concept_version_id": 17615, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4182", "phenotype_version_id": 9400, "phenotype_name": "Female infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "1403", "description": "female infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10131, "concept_version_id": 17616, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4182", "phenotype_version_id": 9400, "phenotype_name": "Female infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "N97", "description": "Female infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10132, "concept_version_id": 17617, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4182", "phenotype_version_id": 9400, "phenotype_name": "Female infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "N97", "description": "Female infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10133, "concept_version_id": 17618, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4182", "phenotype_version_id": 9400, "phenotype_name": "Female infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "N97", "description": "Female infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10134, "concept_version_id": 17619, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4182", "phenotype_version_id": 9400, "phenotype_name": "Female infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "N97", "description": "Female infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10135, "concept_version_id": 17620, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4182", "phenotype_version_id": 9400, "phenotype_name": "Female infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "K26y300", "description": "Infertility due to radiation", "attributes": { "type": "any" } }, { "code": "K26y400", "description": "Infertility in systemic disease", "attributes": { "type": "any" } }, { "code": "K5B..00", "description": "Infertility - female", "attributes": { "type": "any" } }, { "code": "K5B0.00", "description": "Female infertility of anovulatory origin", "attributes": { "type": "any" } }, { "code": "K5B0000", "description": "Primary anovulatory infertility", "attributes": { "type": "any" } }, { "code": "K5B0100", "description": "Secondary anovulatory infertility", "attributes": { "type": "any" } }, { "code": "K5B0.11", "description": "Anovular cycle", "attributes": { "type": "any" } }, { "code": "K5B0z00", "description": "Female infertility of anovulatory origin NOS", "attributes": { "type": "any" } }, { "code": "K5B1.00", "description": "Female infertility of pituitary - hypothalamic origin", "attributes": { "type": "any" } }, { "code": "K5B1000", "description": "Primary pituitary - hypothalamic infertility", "attributes": { "type": "any" } }, { "code": "K5B1100", "description": "Secondary pituitary - hypothalamic infertility", "attributes": { "type": "any" } }, { "code": "K5B1z00", "description": "Female infertility of pituitary - hypothalamic cause NOS", "attributes": { "type": "any" } }, { "code": "K5B2.00", "description": "Female infertility of tubal origin", "attributes": { "type": "any" } }, { "code": "K5B2000", "description": "Primary tubal infertility", "attributes": { "type": "any" } }, { "code": "K5B2100", "description": "Secondary tubal infertility", "attributes": { "type": "any" } }, { "code": "K5B2300", "description": "Blocked fallopian tube", "attributes": { "type": "any" } }, { "code": "K5B2z00", "description": "Female infertility of tubal origin NOS", "attributes": { "type": "any" } }, { "code": "K5B3.00", "description": "Female infertility of uterine origin", "attributes": { "type": "any" } }, { "code": "K5B3000", "description": "Primary uterine infertility", "attributes": { "type": "any" } }, { "code": "K5B3100", "description": "Secondary uterine infertility", "attributes": { "type": "any" } }, { "code": "K5B3z00", "description": "Female infertility of uterine origin NOS", "attributes": { "type": "any" } }, { "code": "K5B4.00", "description": "Female infertility of cervical origin", "attributes": { "type": "any" } }, { "code": "K5B4000", "description": "Primary cervical infertility", "attributes": { "type": "any" } }, { "code": "K5B4100", "description": "Secondary cervical infertility", "attributes": { "type": "any" } }, { "code": "K5B5.00", "description": "Female infertility of vaginal origin", "attributes": { "type": "any" } }, { "code": "K5B5100", "description": "Secondary vaginal infertility", "attributes": { "type": "any" } }, { "code": "K5B6.00", "description": "Female infertility associated with male factors", "attributes": { "type": "any" } }, { "code": "K5B7.00", "description": "Female infertility due to diminished ovarian reserve", "attributes": { "type": "any" } }, { "code": "K5By.00", "description": "Other female infertility", "attributes": { "type": "any" } }, { "code": "K5By000", "description": "Primary infertility unspecified", "attributes": { "type": "any" } }, { "code": "K5By100", "description": "Secondary infertility unspecified", "attributes": { "type": "any" } }, { "code": "K5Byz00", "description": "Other female infertility NOS", "attributes": { "type": "any" } }, { "code": "K5Byz11", "description": "Subfertility", "attributes": { "type": "any" } }, { "code": "K5Bz.00", "description": "Female infertility NOS", "attributes": { "type": "any" } }, { "code": "Kyu9G00", "description": "[X]Female infertility of other origin", "attributes": { "type": "any" } }, { "code": "X4099", "description": "Blocked fallopian tube", "attributes": { "type": "any" } }, { "code": "X409B", "description": "Female infertility associated with male factors", "attributes": { "type": "any" } }, { "code": "XaZ6K", "description": "Female infertility due to diminished ovarian reserve", "attributes": { "type": "any" } }, { "code": "XE0ex", "description": "Female infertility of anovulatory origin", "attributes": { "type": "any" } }, { "code": "XE0ey", "description": "Other female infertility NOS", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/307c-vg81", "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": 9400, "version_name": "Female infertility", "version_date": "2026-06-08T20:10:07.345635Z", "is_published": true, "is_latest": true } ] } ]