[
  {
    "phenotype_id": "PH4111",
    "phenotype_version_id": 9329,
    "name": "Autoimmune liver disease",
    "definition": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.\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": "2026-06-08T20:06:18.729516Z",
    "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": "2026-06-08T20:06:18.723481Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Autoimmune liver disease (disorder)",
        "value": 51735
      }
    ],
    "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": 9681,
        "concept_version_id": 17166,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4111",
        "phenotype_version_id": 9329,
        "phenotype_name": "Autoimmune liver disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1506",
            "description": "primary biliary cirrhosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9682,
        "concept_version_id": 17167,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4111",
        "phenotype_version_id": 9329,
        "phenotype_name": "Autoimmune liver disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K74.3",
            "description": "Primary biliary cirrhosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K75.4",
            "description": "Autoimmune hepatitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9683,
        "concept_version_id": 17168,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4111",
        "phenotype_version_id": 9329,
        "phenotype_name": "Autoimmune liver disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K74.3",
            "description": "Primary biliary cirrhosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K75.4",
            "description": "Autoimmune hepatitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9684,
        "concept_version_id": 17169,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4111",
        "phenotype_version_id": 9329,
        "phenotype_name": "Autoimmune liver disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K74.3",
            "description": "Primary biliary cirrhosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K75.4",
            "description": "Autoimmune hepatitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9685,
        "concept_version_id": 17170,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4111",
        "phenotype_version_id": 9329,
        "phenotype_name": "Autoimmune liver disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K74.3",
            "description": "Primary biliary cirrhosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K75.4",
            "description": "Autoimmune hepatitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9686,
        "concept_version_id": 17171,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4111",
        "phenotype_version_id": 9329,
        "phenotype_name": "Autoimmune liver disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "J614111",
            "description": "Autoimmune chronic active hepatitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J616000",
            "description": "Primary biliary cirrhosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J63B.00",
            "description": "Autoimmune hepatitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J661700",
            "description": "Primary sclerosing cholangitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaJTk",
            "description": "Autoimmune hepatitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/z0b2-mk32",
    "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": 9329,
        "version_name": "Autoimmune liver disease",
        "version_date": "2026-06-08T20:06:18.741559Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]