[ { "phenotype_id": "PH4144", "phenotype_version_id": 9362, "name": "Liver fibrosis, sclerosis and cirrhosis", "definition": "Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, is a condition in which the liver does not function properly due to long\\-term damage. This damage is characterized by the replacement of normal liver tissue by scar tissue.\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": "2026-06-08T20:08:01.989362Z", "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": "2026-06-08T20:08:01.983255Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Cirrhosis of liver (disorder)", "value": 285931 } ], "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": 9889, "concept_version_id": 17374, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4144", "phenotype_version_id": 9362, "phenotype_name": "Liver fibrosis, sclerosis and cirrhosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "1158", "description": "liver failure/cirrhosis", "attributes": { "type": "any" } }, { "code": "1604", "description": "alcoholic liver disease / alcoholic cirrhosis", "attributes": { "type": "any" } } ] }, { "concept_id": 9890, "concept_version_id": 17375, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4144", "phenotype_version_id": 9362, "phenotype_name": "Liver fibrosis, sclerosis and cirrhosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "K70.1", "description": "Alcoholic hepatitis", "attributes": { "type": "any" } }, { "code": "K70.2", "description": "Alcoholic fibrosis and sclerosis of liver", "attributes": { "type": "any" } }, { "code": "K70.3", "description": "Alcoholic cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "K71.7", "description": "Toxic liver disease with fibrosis and cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "K74.0", "description": "Hepatic fibrosis", "attributes": { "type": "any" } }, { "code": "K74.1", "description": "Hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "K74.2", "description": "Hepatic fibrosis with hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "K74.4", "description": "Secondary biliary cirrhosis", "attributes": { "type": "any" } }, { "code": "K74.5", "description": "Biliary cirrhosis, unspecified", "attributes": { "type": "any" } }, { "code": "K74.6", "description": "Other and unspecified cirrhosis of liver", "attributes": { "type": "any" } } ] }, { "concept_id": 9891, "concept_version_id": 17376, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4144", "phenotype_version_id": 9362, "phenotype_name": "Liver fibrosis, sclerosis and cirrhosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "K70.1", "description": "Alcoholic hepatitis", "attributes": { "type": "any" } }, { "code": "K70.2", "description": "Alcoholic fibrosis and sclerosis of liver", "attributes": { "type": "any" } }, { "code": "K70.3", "description": "Alcoholic cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "K71.7", "description": "Toxic liver disease with fibrosis and cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "K74.0", "description": "Hepatic fibrosis", "attributes": { "type": "any" } }, { "code": "K74.1", "description": "Hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "K74.2", "description": "Hepatic fibrosis with hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "K74.4", "description": "Secondary biliary cirrhosis", "attributes": { "type": "any" } }, { "code": "K74.5", "description": "Biliary cirrhosis, unspecified", "attributes": { "type": "any" } }, { "code": "K74.6", "description": "Other and unspecified cirrhosis of liver", "attributes": { "type": "any" } } ] }, { "concept_id": 9892, "concept_version_id": 17377, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4144", "phenotype_version_id": 9362, "phenotype_name": "Liver fibrosis, sclerosis and cirrhosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "K70.1", "description": "Alcoholic hepatitis", "attributes": { "type": "any" } }, { "code": "K70.2", "description": "Alcoholic fibrosis and sclerosis of liver", "attributes": { "type": "any" } }, { "code": "K70.3", "description": "Alcoholic cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "K71.7", "description": "Toxic liver disease with fibrosis and cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "K74.0", "description": "Hepatic fibrosis", "attributes": { "type": "any" } }, { "code": "K74.1", "description": "Hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "K74.2", "description": "Hepatic fibrosis with hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "K74.4", "description": "Secondary biliary cirrhosis", "attributes": { "type": "any" } }, { "code": "K74.5", "description": "Biliary cirrhosis, unspecified", "attributes": { "type": "any" } }, { "code": "K74.6", "description": "Other and unspecified cirrhosis of liver", "attributes": { "type": "any" } } ] }, { "concept_id": 9893, "concept_version_id": 17378, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4144", "phenotype_version_id": 9362, "phenotype_name": "Liver fibrosis, sclerosis and cirrhosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "K70.1", "description": "Alcoholic hepatitis", "attributes": { "type": "any" } }, { "code": "K70.2", "description": "Alcoholic fibrosis and sclerosis of liver", "attributes": { "type": "any" } }, { "code": "K70.3", "description": "Alcoholic cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "K71.7", "description": "Toxic liver disease with fibrosis and cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "K74.0", "description": "Hepatic fibrosis", "attributes": { "type": "any" } }, { "code": "K74.1", "description": "Hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "K74.2", "description": "Hepatic fibrosis with hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "K74.4", "description": "Secondary biliary cirrhosis", "attributes": { "type": "any" } }, { "code": "K74.5", "description": "Biliary cirrhosis, unspecified", "attributes": { "type": "any" } }, { "code": "K74.6", "description": "Other and unspecified cirrhosis of liver", "attributes": { "type": "any" } } ] }, { "concept_id": 9894, "concept_version_id": 17379, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4144", "phenotype_version_id": 9362, "phenotype_name": "Liver fibrosis, sclerosis and cirrhosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "C310400", "description": "Glycogenosis with hepatic cirrhosis", "attributes": { "type": "any" } }, { "code": "C350012", "description": "Pigmentary cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "C370800", "description": "Cystic fibrosis related cirrhosis", "attributes": { "type": "any" } }, { "code": "G852200", "description": "Oesophageal varices in cirrhosis of the liver", "attributes": { "type": "any" } }, { "code": "G852300", "description": "Oesophageal varices in alcoholic cirrhosis of the liver", "attributes": { "type": "any" } }, { "code": "J61..00", "description": "Cirrhosis and chronic liver disease", "attributes": { "type": "any" } }, { "code": "J612.00", "description": "Alcoholic cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "J612000", "description": "Alcoholic fibrosis and sclerosis of liver", "attributes": { "type": "any" } }, { "code": "J612.11", "description": "Florid cirrhosis", "attributes": { "type": "any" } }, { "code": "J612.12", "description": "Laennec's cirrhosis", "attributes": { "type": "any" } }, { "code": "J613.00", "description": "Alcoholic liver damage unspecified", "attributes": { "type": "any" } }, { "code": "J613000", "description": "Alcoholic hepatic failure", "attributes": { "type": "any" } }, { "code": "J615.00", "description": "Cirrhosis - non alcoholic", "attributes": { "type": "any" } }, { "code": "J615100", "description": "Multilobular portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615.11", "description": "Portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615300", "description": "Diffuse nodular cirrhosis", "attributes": { "type": "any" } }, { "code": "J615400", "description": "Fatty portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615500", "description": "Hypertrophic portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615600", "description": "Capsular portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615700", "description": "Cardiac portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615711", "description": "Congestive cirrhosis", "attributes": { "type": "any" } }, { "code": "J615800", "description": "Juvenile portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615812", "description": "Indian childhood cirrhosis", "attributes": { "type": "any" } }, { "code": "J615C00", "description": "Xanthomatous portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615D00", "description": "Bacterial portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615G00", "description": "Zooparasitic portal cirrhosis", "attributes": { "type": "any" } }, { "code": "J615H00", "description": "Infectious cirrhosis NOS", "attributes": { "type": "any" } }, { "code": "J615y00", "description": "Portal cirrhosis unspecified", "attributes": { "type": "any" } }, { "code": "J615z00", "description": "Non-alcoholic cirrhosis NOS", "attributes": { "type": "any" } }, { "code": "J615z11", "description": "Macronodular cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "J615z12", "description": "Cryptogenic cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "J615z13", "description": "Cirrhosis of liver NOS", "attributes": { "type": "any" } }, { "code": "J615z15", "description": "Hepatic fibrosis", "attributes": { "type": "any" } }, { "code": "J616.00", "description": "Biliary cirrhosis", "attributes": { "type": "any" } }, { "code": "J616100", "description": "Secondary biliary cirrhosis", "attributes": { "type": "any" } }, { "code": "J616200", "description": "Biliary cirrhosis of children", "attributes": { "type": "any" } }, { "code": "J616z00", "description": "Biliary cirrhosis NOS", "attributes": { "type": "any" } }, { "code": "J617.00", "description": "Alcoholic hepatitis", "attributes": { "type": "any" } }, { "code": "J617000", "description": "Chronic alcoholic hepatitis", "attributes": { "type": "any" } }, { "code": "J61y300", "description": "Portal fibrosis without cirrhosis", "attributes": { "type": "any" } }, { "code": "J61y400", "description": "Hepatic fibrosis", "attributes": { "type": "any" } }, { "code": "J61y500", "description": "Hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "J61y600", "description": "Hepatic fibrosis with hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "J635600", "description": "Toxic liver disease with fibrosis and cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "Jyu7100", "description": "[X]Other and unspecified cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "X306r", "description": "Alcoholic hepatitis", "attributes": { "type": "any" } }, { "code": "X3072", "description": "Alcoholic fibrosis and sclerosis of liver", "attributes": { "type": "any" } }, { "code": "X3073", "description": "Alcoholic hepatic failure", "attributes": { "type": "any" } }, { "code": "X307b", "description": "Hepatic fibrosis with hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "X307Z", "description": "Hepatic sclerosis", "attributes": { "type": "any" } }, { "code": "XaBE3", "description": "Chronic alcoholic hepatitis", "attributes": { "type": "any" } }, { "code": "XaBM6", "description": "Oesophageal varices in cirrhosis of the liver", "attributes": { "type": "any" } }, { "code": "XaC1d", "description": "Oesophageal varices in alcoholic cirrhosis of the liver", "attributes": { "type": "any" } }, { "code": "XaXi9", "description": "Cystic fibrosis related cirrhosis", "attributes": { "type": "any" } }, { "code": "XE0b4", "description": "Alcoholic cirrhosis of liver", "attributes": { "type": "any" } }, { "code": "XE0b6", "description": "Multilobular portal cirrhosis", "attributes": { "type": "any" } }, { "code": "XE0b7", "description": "Cardiac portal cirrhosis", "attributes": { "type": "any" } }, { "code": "XE0b8", "description": "Juvenile portal cirrhosis", "attributes": { "type": "any" } }, { "code": "XE0bA", "description": "Non-alcoholic cirrhosis NOS", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/j61f-cv78", "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": 9362, "version_name": "Liver fibrosis, sclerosis and cirrhosis", "version_date": "2026-06-08T20:08:01.999536Z", "is_published": true, "is_latest": true } ] } ]