[ { "phenotype_id": "PH4232", "phenotype_version_id": 9450, "name": "Male infertility", "definition": "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse.\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": "2026-06-08T20:12:48.587786Z", "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": "2026-06-08T20:12:48.579051Z", "sex": [ { "name": "Male", "value": "1" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Male infertility (disorder)", "value": 186400 } ], "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": 10434, "concept_version_id": 17919, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4232", "phenotype_version_id": 9450, "phenotype_name": "Male infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "1404", "description": "male infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10435, "concept_version_id": 17920, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4232", "phenotype_version_id": 9450, "phenotype_name": "Male infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "N46", "description": "Male infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10436, "concept_version_id": 17921, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4232", "phenotype_version_id": 9450, "phenotype_name": "Male infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "N46", "description": "Male infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10437, "concept_version_id": 17922, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4232", "phenotype_version_id": 9450, "phenotype_name": "Male infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "N46", "description": "Male infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10438, "concept_version_id": 17923, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4232", "phenotype_version_id": 9450, "phenotype_name": "Male infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "N46", "description": "Male infertility", "attributes": { "type": "any" } } ] }, { "concept_id": 10439, "concept_version_id": 17924, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4232", "phenotype_version_id": 9450, "phenotype_name": "Male infertility", "code_attribute_header": [ "type" ], "codes": [ { "code": "4914.00", "description": "Semen exam.: low fertility", "attributes": { "type": "any" } }, { "code": "4915.00", "description": "Semen exam.:very low fertility", "attributes": { "type": "any" } }, { "code": "4916.00", "description": "Semen exam.: infertile", "attributes": { "type": "any" } }, { "code": "4917.00", "description": "Semen exam: abnormal", "attributes": { "type": "any" } }, { "code": "K26..00", "description": "Male infertility", "attributes": { "type": "any" } }, { "code": "K260.00", "description": "Azoospermia", "attributes": { "type": "any" } }, { "code": "K260.11", "description": "Young's syndrome", "attributes": { "type": "any" } }, { "code": "K261.00", "description": "Oligospermia", "attributes": { "type": "any" } }, { "code": "K261000", "description": "Oligoasthenozoospermia", "attributes": { "type": "any" } }, { "code": "K262.00", "description": "Aspermia", "attributes": { "type": "any" } }, { "code": "K26y.00", "description": "Infertility due to extratesticular cause", "attributes": { "type": "any" } }, { "code": "K26y200", "description": "Infertility due to efferent duct obstruction", "attributes": { "type": "any" } }, { "code": "K26y300", "description": "Infertility due to radiation", "attributes": { "type": "any" } }, { "code": "K26y400", "description": "Infertility in systemic disease", "attributes": { "type": "any" } }, { "code": "K26yz00", "description": "Infertility due to extratesticular cause NOS", "attributes": { "type": "any" } }, { "code": "K26z.00", "description": "Male infertility NOS", "attributes": { "type": "any" } }, { "code": "K5B1000", "description": "Primary pituitary - hypothalamic infertility", "attributes": { "type": "any" } }, { "code": "K5B1100", "description": "Secondary pituitary - hypothalamic infertility", "attributes": { "type": "any" } }, { "code": "K5B6.00", "description": "Female infertility associated with male factors", "attributes": { "type": "any" } }, { "code": "K5By000", "description": "Primary infertility unspecified", "attributes": { "type": "any" } }, { "code": "K5By100", "description": "Secondary infertility unspecified", "attributes": { "type": "any" } }, { "code": "K5Byz11", "description": "Subfertility", "attributes": { "type": "any" } }, { "code": "X409B", "description": "Female infertility associated with male factors", "attributes": { "type": "any" } }, { "code": "XaXbT", "description": "Oligoasthenozoospermia", "attributes": { "type": "any" } }, { "code": "XaXUx", "description": "Aspermia", "attributes": { "type": "any" } }, { "code": "XE0eA", "description": "Azoospermia", "attributes": { "type": "any" } }, { "code": "XE0ey", "description": "Other female infertility NOS", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/jgt7-k692", "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": 9450, "version_name": "Male infertility", "version_date": "2026-06-08T20:12:48.599568Z", "is_published": true, "is_latest": true } ] } ]