[ { "phenotype_id": "PH4181", "phenotype_version_id": 9399, "name": "Female genital prolapse", "definition": "A female reproductive system disease that is characteried by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening.\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": "2026-06-08T20:10:04.447606Z", "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": "2026-06-08T20:10:04.442599Z", "sex": [ { "name": "Female", "value": "2" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Prolapse of female genital organs (disorder)", "value": 212272 } ], "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": 10124, "concept_version_id": 17609, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4181", "phenotype_version_id": 9399, "phenotype_name": "Female genital prolapse", "code_attribute_header": [ "type" ], "codes": [ { "code": "1353", "description": "vaginal prolapse/uterine prolapse", "attributes": { "type": "any" } } ] }, { "concept_id": 10125, "concept_version_id": 17610, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4181", "phenotype_version_id": 9399, "phenotype_name": "Female genital prolapse", "code_attribute_header": [ "type" ], "codes": [ { "code": "N81", "description": "Female genital prolapse", "attributes": { "type": "any" } } ] }, { "concept_id": 10126, "concept_version_id": 17611, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4181", "phenotype_version_id": 9399, "phenotype_name": "Female genital prolapse", "code_attribute_header": [ "type" ], "codes": [ { "code": "N81", "description": "Female genital prolapse", "attributes": { "type": "any" } } ] }, { "concept_id": 10127, "concept_version_id": 17612, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4181", "phenotype_version_id": 9399, "phenotype_name": "Female genital prolapse", "code_attribute_header": [ "type" ], "codes": [ { "code": "N81", "description": "Female genital prolapse", "attributes": { "type": "any" } } ] }, { "concept_id": 10128, "concept_version_id": 17613, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4181", "phenotype_version_id": 9399, "phenotype_name": "Female genital prolapse", "code_attribute_header": [ "type" ], "codes": [ { "code": "N81", "description": "Female genital prolapse", "attributes": { "type": "any" } } ] }, { "concept_id": 10129, "concept_version_id": 17614, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4181", "phenotype_version_id": 9399, "phenotype_name": "Female genital prolapse", "code_attribute_header": [ "type" ], "codes": [ { "code": "1594.00", "description": "H/O: genital prolapse", "attributes": { "type": "prevalent" } }, { "code": "7D17.00", "description": "Repair of vaginal prolapse and amputation of cervix uteri", "attributes": { "type": "any" } }, { "code": "7D17000", "description": "Ant and post colporrhaphy and amputation of cervix uteri", "attributes": { "type": "any" } }, { "code": "7D17100", "description": "Anterior colporrhaphy and amputation of cervix uteri NEC", "attributes": { "type": "any" } }, { "code": "7D17.11", "description": "Colporrhaphy and amputation of cervix uteri", "attributes": { "type": "any" } }, { "code": "7D17111", "description": "Fothergill anterior colporrhaphy and amputation of cervix", "attributes": { "type": "any" } }, { "code": "7D17200", "description": "Posterior colporrhaphy and amputation of cervix uteri NEC", "attributes": { "type": "any" } }, { "code": "7D17y00", "description": "Repair of vaginal prolapse & amputation of cervix uteri OS", "attributes": { "type": "any" } }, { "code": "7D17z00", "description": "Repair of vaginal prolapse & amputation of cervix uteri NOS", "attributes": { "type": "any" } }, { "code": "7D17z11", "description": "Manchester repair", "attributes": { "type": "any" } }, { "code": "7D18.00", "description": "Other repair of vaginal prolapse", "attributes": { "type": "any" } }, { "code": "7D18000", "description": "Anterior and posterior colporrhaphy NEC", "attributes": { "type": "any" } }, { "code": "7D18011", "description": "Anterior and posterior repair", "attributes": { "type": "any" } }, { "code": "7D18100", "description": "Anterior colporrhaphy NEC", "attributes": { "type": "any" } }, { "code": "7D18.11", "description": "Colporrhaphy", "attributes": { "type": "any" } }, { "code": "7D18111", "description": "Anterior repair", "attributes": { "type": "any" } }, { "code": "7D18200", "description": "Posterior colporrhaphy NEC", "attributes": { "type": "any" } }, { "code": "7D18211", "description": "Posterior repair", "attributes": { "type": "any" } }, { "code": "7D18300", "description": "Repair of enterocele NEC", "attributes": { "type": "any" } }, { "code": "7D18311", "description": "McCall repair of enterocele", "attributes": { "type": "any" } }, { "code": "7D18312", "description": "Moschowitz repair of enterocele", "attributes": { "type": "any" } }, { "code": "7D18400", "description": "Colporrhaphy NEC", "attributes": { "type": "any" } }, { "code": "7D18500", "description": "Anterior mesh vaginal repair", "attributes": { "type": "any" } }, { "code": "7D18600", "description": "Paravaginal repair", "attributes": { "type": "any" } }, { "code": "7D18700", "description": "Anterior colporrhaphy with mesh reinforcement", "attributes": { "type": "any" } }, { "code": "7D18800", "description": "Posterior colporrhaphy with mesh reinforcement", "attributes": { "type": "any" } }, { "code": "7D18y00", "description": "Other specified other repair of vaginal prolapse", "attributes": { "type": "any" } }, { "code": "7D18z00", "description": "Other repair of vaginal prolapse NOS", "attributes": { "type": "any" } }, { "code": "7D19.00", "description": "Repair of vault of vagina", "attributes": { "type": "any" } }, { "code": "7D19000", "description": "Repair vaginal vault combined abdominal & vaginal approach", "attributes": { "type": "any" } }, { "code": "7D19100", "description": "Repair of vault of vagina using abdominal approach NEC", "attributes": { "type": "any" } }, { "code": "7D19200", "description": "Repair of vault of vagina using vaginal approach NEC", "attributes": { "type": "any" } }, { "code": "7D19300", "description": "Sacrocolpopexy", "attributes": { "type": "any" } }, { "code": "7D19400", "description": "Suspension of vagina NEC", "attributes": { "type": "any" } }, { "code": "7D19500", "description": "Sacrospinous fixation of vaginal vault", "attributes": { "type": "any" } }, { "code": "7D19600", "description": "Repair of vault of vagina with mesh using abdominal approach", "attributes": { "type": "any" } }, { "code": "7D19700", "description": "Repair of vault of vagina with mesh using vaginal approach", "attributes": { "type": "any" } }, { "code": "7D19y00", "description": "Other specified repair of vault of vagina", "attributes": { "type": "any" } }, { "code": "7D19z00", "description": "Repair of vault of vagina NOS", "attributes": { "type": "any" } }, { "code": "7D1A411", "description": "Colpoperineorrhaphy", "attributes": { "type": "any" } }, { "code": "7D1B.00", "description": "Introduction of supporting pessary into vagina", "attributes": { "type": "any" } }, { "code": "7D1B000", "description": "Insertion of Hodge pessary into vagina", "attributes": { "type": "any" } }, { "code": "7D1B1", "description": "Insertion of ring pessary into vagina", "attributes": { "type": "any" } }, { "code": "7D1B100", "description": "Insertion of ring into vagina", "attributes": { "type": "any" } }, { "code": "7D1B200", "description": "Removal of supporting pessary from vagina", "attributes": { "type": "any" } }, { "code": "7D1B300", "description": "Change of vaginal pessary", "attributes": { "type": "any" } }, { "code": "7D1B400", "description": "Removal of ring pessary from vagina", "attributes": { "type": "any" } }, { "code": "7D1B500", "description": "Renewal of supporting pessary in vagina", "attributes": { "type": "any" } }, { "code": "7D1B600", "description": "Insertion of ring pessary into vagina", "attributes": { "type": "any" } }, { "code": "7D1By00", "description": "Introduction of supporting pessary into vagina OS", "attributes": { "type": "any" } }, { "code": "7D1Bz00", "description": "Introduction of supporting pessary into vagina NOS", "attributes": { "type": "any" } }, { "code": "K51..00", "description": "Genital prolapse", "attributes": { "type": "any" } }, { "code": "K510.00", "description": "Vaginal wall prolapse without uterine prolapse", "attributes": { "type": "any" } }, { "code": "K510000", "description": "Cystocele without uterine prolapse", "attributes": { "type": "any" } }, { "code": "K510100", "description": "Cystourethrocele without uterine prolapse", "attributes": { "type": "any" } }, { "code": "K510200", "description": "Rectocele without uterine prolapse", "attributes": { "type": "any" } }, { "code": "K510211", "description": "Proctocele without uterine prolapse", "attributes": { "type": "any" } }, { "code": "K510300", "description": "Urethrocele without uterine prolapse", "attributes": { "type": "any" } }, { "code": "K510400", "description": "Vaginal prolapse unspecified without uterine prolapse", "attributes": { "type": "any" } }, { "code": "K510z00", "description": "Vaginal prolapse without uterine prolapse NOS", "attributes": { "type": "any" } }, { "code": "K511.00", "description": "Uterine prolapse without vaginal wall prolapse", "attributes": { "type": "any" } }, { "code": "K511000", "description": "First degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "K511100", "description": "Second degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "K511.11", "description": "Descens uteri", "attributes": { "type": "any" } }, { "code": "K511200", "description": "Third degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "K511z00", "description": "Uterine prolapse without vaginal wall prolapse NOS", "attributes": { "type": "any" } }, { "code": "K512.00", "description": "Uterovaginal prolapse, incomplete", "attributes": { "type": "any" } }, { "code": "K512000", "description": "Cystocele with first degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "K512100", "description": "Cystocele with second degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "K513.00", "description": "Uterovaginal prolapse, complete", "attributes": { "type": "any" } }, { "code": "K513000", "description": "Cystocele with third degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "K513.11", "description": "Procidentia - uterine", "attributes": { "type": "any" } }, { "code": "K514.00", "description": "Uterovaginal prolapse, unspecified", "attributes": { "type": "any" } }, { "code": "K514000", "description": "Cystocele with unspecified uterine prolapse", "attributes": { "type": "any" } }, { "code": "K515.00", "description": "Post hysterectomy vaginal vault prolapse", "attributes": { "type": "any" } }, { "code": "K516.00", "description": "Vaginal enterocele", "attributes": { "type": "any" } }, { "code": "K516100", "description": "Acquired vaginal enterocele", "attributes": { "type": "any" } }, { "code": "K516.11", "description": "Pelvic enterocele", "attributes": { "type": "any" } }, { "code": "K516z00", "description": "Vaginal enterocele NOS", "attributes": { "type": "any" } }, { "code": "K517.00", "description": "Old laceration of pelvic floor muscle", "attributes": { "type": "any" } }, { "code": "K518.00", "description": "Female rectocele", "attributes": { "type": "any" } }, { "code": "K519.00", "description": "Cystocele", "attributes": { "type": "any" } }, { "code": "K51y.00", "description": "Other genital prolapse", "attributes": { "type": "any" } }, { "code": "K51y000", "description": "Incompetence of pelvic fundus", "attributes": { "type": "any" } }, { "code": "K51y100", "description": "Weakening of pelvic fundus", "attributes": { "type": "any" } }, { "code": "K51y300", "description": "Relaxation of pelvis", "attributes": { "type": "any" } }, { "code": "K51yz00", "description": "Other genital prolapse NOS", "attributes": { "type": "any" } }, { "code": "K51z.00", "description": "Genital prolapse NOS", "attributes": { "type": "any" } }, { "code": "Kyu9100", "description": "[X]Other female genital prolapse", "attributes": { "type": "any" } }, { "code": "SP07900", "description": "Problem with vaginal pessary", "attributes": { "type": "any" } }, { "code": "X402f", "description": "Sacrospinous fixation of vaginal vault", "attributes": { "type": "any" } }, { "code": "X402i", "description": "Renewal of supporting pessary in vagina", "attributes": { "type": "any" } }, { "code": "X402n", "description": "Removal of ring pessary from vagina", "attributes": { "type": "any" } }, { "code": "X77Sc", "description": "Cystocele", "attributes": { "type": "any" } }, { "code": "Xa9CL", "description": "Female rectocele", "attributes": { "type": "any" } }, { "code": "XaF7h", "description": "Anterior mesh vaginal repair", "attributes": { "type": "any" } }, { "code": "XaJzO", "description": "Cystocele with first degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "XaJzP", "description": "Cystocele with second degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "XaJzQ", "description": "Cystocele with third degree uterine prolapse", "attributes": { "type": "any" } }, { "code": "XaJzR", "description": "Cystocele with unspecified uterine prolapse", "attributes": { "type": "any" } }, { "code": "XaM53", "description": "Repair of vault of vagina with mesh using abdominal approach", "attributes": { "type": "any" } }, { "code": "XaM54", "description": "Repair of vault of vagina with mesh using vaginal approach", "attributes": { "type": "any" } }, { "code": "XaM56", "description": "Paravaginal repair", "attributes": { "type": "any" } }, { "code": "XaMu8", "description": "Anterior colporrhaphy with mesh reinforcement", "attributes": { "type": "any" } }, { "code": "XaMu9", "description": "Posterior colporrhaphy with mesh reinforcement", "attributes": { "type": "any" } }, { "code": "XE0eY", "description": "Uterine prolapse without vaginal wall prolapse", "attributes": { "type": "any" } }, { "code": "XE0HA", "description": "Anterior colporrhaphy and amputation of cervix uteri NEC", "attributes": { "type": "any" } }, { "code": "XE0HB", "description": "Repair of vaginal prolapse and amputation of cervix uteri NOS", "attributes": { "type": "any" } }, { "code": "XE0HC", "description": "Other repair of vaginal prolapse", "attributes": { "type": "any" } }, { "code": "XE0HD", "description": "Anterior and posterior colporrhaphy NEC", "attributes": { "type": "any" } }, { "code": "XE0HE", "description": "Anterior colporrhaphy NEC", "attributes": { "type": "any" } }, { "code": "XE0HF", "description": "Posterior colporrhaphy NEC", "attributes": { "type": "any" } }, { "code": "XE0HG", "description": "Repair of enterocele NEC", "attributes": { "type": "any" } }, { "code": "XE0HH", "description": "Suture of vagina", "attributes": { "type": "any" } }, { "code": "XE2aD", "description": "Vaginal enterocele", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/swyq-d464", "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": 9399, "version_name": "Female genital prolapse", "version_date": "2026-06-08T20:10:04.455830Z", "is_published": true, "is_latest": true } ] } ]