[ { "phenotype_id": "PH4106", "phenotype_version_id": 9324, "name": "Appendicitis", "definition": "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.\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": "2026-06-08T20:06:04.395024Z", "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": "2026-06-08T20:06:04.389080Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Appendicitis (disorder)", "value": 87919 } ], "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 }, { "name": "OPCS4 codes", "value": 7 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 9647, "concept_version_id": 17132, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4106", "phenotype_version_id": 9324, "phenotype_name": "Appendicitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "1502", "description": "appendicitis", "attributes": { "type": "any" } } ] }, { "concept_id": 9648, "concept_version_id": 17133, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4106", "phenotype_version_id": 9324, "phenotype_name": "Appendicitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "K35", "description": "Acute appendicitis", "attributes": { "type": "any" } }, { "code": "K36", "description": "Other appendicitis", "attributes": { "type": "any" } }, { "code": "K37", "description": "Unspecified appendicitis", "attributes": { "type": "any" } } ] }, { "concept_id": 9649, "concept_version_id": 17134, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4106", "phenotype_version_id": 9324, "phenotype_name": "Appendicitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "K35", "description": "Acute appendicitis", "attributes": { "type": "any" } }, { "code": "K36", "description": "Other appendicitis", "attributes": { "type": "any" } }, { "code": "K37", "description": "Unspecified appendicitis", "attributes": { "type": "any" } } ] }, { "concept_id": 9650, "concept_version_id": 17135, "concept_name": "Operative procedures - main OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4106", "phenotype_version_id": 9324, "phenotype_name": "Appendicitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "H01", "description": "Emergency excision of appendix", "attributes": { "type": "any" } }, { "code": "H01.1", "description": "Emergency excision of abnormal appendix and drainage HFQ", "attributes": { "type": "any" } }, { "code": "H01.2", "description": "Emergency excision of abnormal appendix NEC", "attributes": { "type": "any" } }, { "code": "H01.8", "description": "Other specified emergency excision of appendix", "attributes": { "type": "any" } }, { "code": "H01.9", "description": "Unspecified emergency excision of appendix", "attributes": { "type": "any" } }, { "code": "H02", "description": "Other excision of appendix", "attributes": { "type": "any" } }, { "code": "H02.1", "description": "Interval appendicectomy", "attributes": { "type": "any" } }, { "code": "H02.2", "description": "Planned delayed appendicectomy NEC", "attributes": { "type": "any" } }, { "code": "H02.3", "description": "Prophylactic appendicectomy NEC", "attributes": { "type": "any" } }, { "code": "H02.8", "description": "Other specified other excision of appendix", "attributes": { "type": "any" } }, { "code": "H02.9", "description": "Unspecified other excision of appendix", "attributes": { "type": "any" } }, { "code": "H03", "description": "Other operations on appendix", "attributes": { "type": "any" } }, { "code": "H03.1", "description": "Drainage of abscess of appendix", "attributes": { "type": "any" } }, { "code": "H03.2", "description": "Drainage of appendix NEC", "attributes": { "type": "any" } } ] }, { "concept_id": 9651, "concept_version_id": 17136, "concept_name": "Operative procedures - secondary OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4106", "phenotype_version_id": 9324, "phenotype_name": "Appendicitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "H01", "description": "H01", "attributes": { "type": "any" } }, { "code": "H01.1", "description": "H01.1", "attributes": { "type": "any" } }, { "code": "H01.2", "description": "H01.2", "attributes": { "type": "any" } }, { "code": "H01.8", "description": "H01.8", "attributes": { "type": "any" } }, { "code": "H01.9", "description": "H01.9", "attributes": { "type": "any" } }, { "code": "H02", "description": "H02", "attributes": { "type": "any" } }, { "code": "H02.1", "description": "H02.1", "attributes": { "type": "any" } }, { "code": "H02.2", "description": "H02.2", "attributes": { "type": "any" } }, { "code": "H02.3", "description": "H02.3", "attributes": { "type": "any" } }, { "code": "H02.8", "description": "H02.8", "attributes": { "type": "any" } }, { "code": "H02.9", "description": "H02.9", "attributes": { "type": "any" } }, { "code": "H03", "description": "H03", "attributes": { "type": "any" } }, { "code": "H03.1", "description": "H03.1", "attributes": { "type": "any" } }, { "code": "H03.2", "description": "H03.2", "attributes": { "type": "any" } } ] }, { "concept_id": 9652, "concept_version_id": 17137, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4106", "phenotype_version_id": 9324, "phenotype_name": "Appendicitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "K35", "description": "Acute appendicitis", "attributes": { "type": "any" } }, { "code": "K36", "description": "Other appendicitis", "attributes": { "type": "any" } }, { "code": "K37", "description": "Unspecified appendicitis", "attributes": { "type": "any" } } ] }, { "concept_id": 9653, "concept_version_id": 17138, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4106", "phenotype_version_id": 9324, "phenotype_name": "Appendicitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "K35", "description": "Acute appendicitis", "attributes": { "type": "any" } }, { "code": "K36", "description": "Other appendicitis", "attributes": { "type": "any" } }, { "code": "K37", "description": "Unspecified appendicitis", "attributes": { "type": "any" } } ] }, { "concept_id": 9654, "concept_version_id": 17139, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4106", "phenotype_version_id": 9324, "phenotype_name": "Appendicitis", "code_attribute_header": [ "type" ], "codes": [ { "code": "14C2.00", "description": "H/O: appendicitis", "attributes": { "type": "prevalent" } }, { "code": "25J6.00", "description": "Appendix mass", "attributes": { "type": "any" } }, { "code": "7700.00", "description": "Emergency excision of appendix", "attributes": { "type": "any" } }, { "code": "7700000.0", "description": "Emergency excision of abnormal appendix and drainage HFQ", "attributes": { "type": "any" } }, { "code": "7700100.0", "description": "Emergency excision of abnormal appendix NEC", "attributes": { "type": "any" } }, { "code": "7700.11", "description": "Emergency appendicectomy", "attributes": { "type": "any" } }, { "code": "7700300.0", "description": "Emergency appendicectomy NEC", "attributes": { "type": "any" } }, { "code": "7700400.0", "description": "Endoscopic emergency appendicectomy", "attributes": { "type": "any" } }, { "code": "7700y00", "description": "Other specified emergency excision of appendix", "attributes": { "type": "any" } }, { "code": "7700z00", "description": "Emergency excision of appendix NOS", "attributes": { "type": "any" } }, { "code": "7701.00", "description": "Other excision of appendix", "attributes": { "type": "any" } }, { "code": "7701000.0", "description": "Interval appendicectomy", "attributes": { "type": "any" } }, { "code": "7701.11", "description": "Non emergency appendicectomy", "attributes": { "type": "any" } }, { "code": "7701300.0", "description": "Planned delayed appendicectomy NEC", "attributes": { "type": "any" } }, { "code": "7701400.0", "description": "Endoscopic appendicectomy NEC", "attributes": { "type": "any" } }, { "code": "7701y00", "description": "Other specified other excision of appendix", "attributes": { "type": "any" } }, { "code": "7701z00", "description": "Other excision of appendix NOS", "attributes": { "type": "any" } }, { "code": "7701z11", "description": "Appendicectomy NEC", "attributes": { "type": "any" } }, { "code": "7702000.0", "description": "Drainage of abscess of appendix", "attributes": { "type": "any" } }, { "code": "7702100.0", "description": "Drainage of appendix NEC", "attributes": { "type": "any" } }, { "code": "J20..00", "description": "Acute appendicitis", "attributes": { "type": "any" } }, { "code": "J200.00", "description": "Acute appendicitis with peritonitis", "attributes": { "type": "any" } }, { "code": "J201.00", "description": "Acute appendicitis with appendix abscess", "attributes": { "type": "any" } }, { "code": "J201.11", "description": "Abscess of appendix", "attributes": { "type": "any" } }, { "code": "J201.12", "description": "Appendix abscess", "attributes": { "type": "any" } }, { "code": "J202.00", "description": "Acute appendicitis without peritonitis", "attributes": { "type": "any" } }, { "code": "J203.00", "description": "Acute appendicitis with generalised peritonitis", "attributes": { "type": "any" } }, { "code": "J204.00", "description": "Acute appendicitis with localised peritonitis", "attributes": { "type": "any" } }, { "code": "J20z.00", "description": "Acute appendicitis NOS", "attributes": { "type": "any" } }, { "code": "J20z100", "description": "Acute gangrenous appendicitis", "attributes": { "type": "any" } }, { "code": "J21..00", "description": "Appendicitis, unqualified", "attributes": { "type": "any" } }, { "code": "J22..00", "description": "Other appendicitis", "attributes": { "type": "any" } }, { "code": "J220.00", "description": "Subacute appendicitis", "attributes": { "type": "any" } }, { "code": "J221.00", "description": "Chronic appendicitis", "attributes": { "type": "any" } }, { "code": "J222.00", "description": "Relapsing appendicitis", "attributes": { "type": "any" } }, { "code": "J223.00", "description": "Recurrent appendicitis", "attributes": { "type": "any" } }, { "code": "J22z.00", "description": "Other appendicitis NOS", "attributes": { "type": "any" } }, { "code": "Jyu2000", "description": "[X]Other appendicitis", "attributes": { "type": "any" } }, { "code": "X304O", "description": "Appendix mass", "attributes": { "type": "any" } }, { "code": "XaYaL", "description": "Acute appendicitis with generalised peritonitis", "attributes": { "type": "any" } }, { "code": "XaYaN", "description": "Acute appendicitis with localised peritonitis", "attributes": { "type": "any" } }, { "code": "XE0aV", "description": "Acute appendicitis with appendix abscess", "attributes": { "type": "any" } }, { "code": "XE0D8", "description": "Other excision of appendix NOS", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/w8pf-e640", "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": 9324, "version_name": "Appendicitis", "version_date": "2026-06-08T20:06:04.405956Z", "is_published": true, "is_latest": true } ] } ]