[ { "phenotype_id": "PH4173", "phenotype_version_id": 9391, "name": "Endometriosis", "definition": "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.\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": "2026-06-08T20:09:37.264858Z", "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": "2026-06-08T20:09:37.258106Z", "sex": [ { "name": "Female", "value": "2" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Endometriosis (morphologic abnormality)", "value": 663567 } ], "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": 10076, "concept_version_id": 17561, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4173", "phenotype_version_id": 9391, "phenotype_name": "Endometriosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "1402", "description": "endometriosis", "attributes": { "type": "any" } } ] }, { "concept_id": 10077, "concept_version_id": 17562, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4173", "phenotype_version_id": 9391, "phenotype_name": "Endometriosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "N80", "description": "Endometriosis", "attributes": { "type": "any" } } ] }, { "concept_id": 10078, "concept_version_id": 17563, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4173", "phenotype_version_id": 9391, "phenotype_name": "Endometriosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "N80", "description": "Endometriosis", "attributes": { "type": "any" } } ] }, { "concept_id": 10079, "concept_version_id": 17564, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4173", "phenotype_version_id": 9391, "phenotype_name": "Endometriosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "N80", "description": "Endometriosis", "attributes": { "type": "any" } } ] }, { "concept_id": 10080, "concept_version_id": 17565, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4173", "phenotype_version_id": 9391, "phenotype_name": "Endometriosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "N80", "description": "Endometriosis", "attributes": { "type": "any" } } ] }, { "concept_id": 10081, "concept_version_id": 17566, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4173", "phenotype_version_id": 9391, "phenotype_name": "Endometriosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "7E0D800", "description": "Laparoscopic laser destruction of endometriosis", "attributes": { "type": "any" } }, { "code": "BBL1.11", "description": "[M]Stromal endometriosis", "attributes": { "type": "any" } }, { "code": "K50..00", "description": "Endometriosis", "attributes": { "type": "any" } }, { "code": "K500.00", "description": "Endometriosis of uterus", "attributes": { "type": "any" } }, { "code": "K500000", "description": "Internal endometriosis", "attributes": { "type": "any" } }, { "code": "K500100", "description": "Endometriosis of myometrium", "attributes": { "type": "any" } }, { "code": "K500111", "description": "Adenomyosis of endometrium", "attributes": { "type": "any" } }, { "code": "K500200", "description": "Endometriosis of cervix", "attributes": { "type": "any" } }, { "code": "K500z00", "description": "Endometriosis of uterus NOS", "attributes": { "type": "any" } }, { "code": "K501.00", "description": "Endometriosis of ovary", "attributes": { "type": "any" } }, { "code": "K50..11", "description": "Adenomyosis", "attributes": { "type": "any" } }, { "code": "K501.11", "description": "Chocolate cyst of ovary", "attributes": { "type": "any" } }, { "code": "K502.00", "description": "Endometriosis of the fallopian tube", "attributes": { "type": "any" } }, { "code": "K503.00", "description": "Endometriosis of the pelvic peritoneum", "attributes": { "type": "any" } }, { "code": "K503000", "description": "Endometriosis of the broad ligament", "attributes": { "type": "any" } }, { "code": "K503100", "description": "Endometriosis of the pouch of Douglas", "attributes": { "type": "any" } }, { "code": "K503200", "description": "Endometriosis of the parametrium", "attributes": { "type": "any" } }, { "code": "K503300", "description": "Endometriosis of the round ligament", "attributes": { "type": "any" } }, { "code": "K503z00", "description": "Endometriosis of the pelvic peritoneum NOS", "attributes": { "type": "any" } }, { "code": "K504.00", "description": "Endometriosis of the rectovaginal septum and vagina", "attributes": { "type": "any" } }, { "code": "K504000", "description": "Endometriosis of the rectovaginal septum", "attributes": { "type": "any" } }, { "code": "K504100", "description": "Endometriosis of the vagina", "attributes": { "type": "any" } }, { "code": "K504z00", "description": "Endometriosis of the rectovaginal septum and vagina NOS", "attributes": { "type": "any" } }, { "code": "K505.00", "description": "Endometriosis of the intestine", "attributes": { "type": "any" } }, { "code": "K505000", "description": "Endometriosis of the appendix", "attributes": { "type": "any" } }, { "code": "K505100", "description": "Endometriosis of the colon", "attributes": { "type": "any" } }, { "code": "K505200", "description": "Endometriosis of the rectum", "attributes": { "type": "any" } }, { "code": "K505z00", "description": "Endometriosis of the intestine NOS", "attributes": { "type": "any" } }, { "code": "K506.00", "description": "Endometriosis in scar of skin", "attributes": { "type": "any" } }, { "code": "K50y.00", "description": "Other endometriosis", "attributes": { "type": "any" } }, { "code": "K50y000", "description": "Endometriosis of the bladder", "attributes": { "type": "any" } }, { "code": "K50y100", "description": "Endometriosis of the lung", "attributes": { "type": "any" } }, { "code": "K50y200", "description": "Endometriosis of the umbilicus", "attributes": { "type": "any" } }, { "code": "K50y300", "description": "Endometriosis of the vulva", "attributes": { "type": "any" } }, { "code": "K50yz00", "description": "Other endometriosis NOS", "attributes": { "type": "any" } }, { "code": "K50z.00", "description": "Endometriosis NOS", "attributes": { "type": "any" } }, { "code": "Kyu9000", "description": "[X]Other endometriosis", "attributes": { "type": "any" } }, { "code": "X408O", "description": "Endometriosis of myometrium", "attributes": { "type": "any" } }, { "code": "XaKcc", "description": "Laparoscopic laser destruction of endometriosis", "attributes": { "type": "any" } }, { "code": "XE0eW", "description": "Endometriosis", "attributes": { "type": "any" } }, { "code": "XE0eX", "description": "Endometriosis of ovary", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/tegt-5h03", "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": 9391, "version_name": "Endometriosis", "version_date": "2026-06-08T20:09:37.276901Z", "is_published": true, "is_latest": true } ] } ]