[
  {
    "phenotype_id": "PH4290",
    "phenotype_version_id": 9508,
    "name": "Primary Malignancy_biliary tract",
    "definition": "A neoplasm that involves the biliary tract.\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": "2026-06-08T20:15:52.524586Z",
    "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": "2026-06-08T20:15:52.519058Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Neoplasm of biliary tract (disorder)",
        "value": 512078
      }
    ],
    "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": 10772,
        "concept_version_id": 18257,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4290",
        "phenotype_version_id": 9508,
        "phenotype_name": "Primary Malignancy_biliary tract",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1025",
            "description": "gallbladder/bile duct cancer",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10773,
        "concept_version_id": 18258,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4290",
        "phenotype_version_id": 9508,
        "phenotype_name": "Primary Malignancy_biliary tract",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.1",
            "description": "Malignant neoplasm: Intrahepatic bile duct carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C24",
            "description": "Malignant neoplasm of other and unspecified parts of biliary tract",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10774,
        "concept_version_id": 18259,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4290",
        "phenotype_version_id": 9508,
        "phenotype_name": "Primary Malignancy_biliary tract",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.1",
            "description": "Malignant neoplasm: Intrahepatic bile duct carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C24",
            "description": "Malignant neoplasm of other and unspecified parts of biliary tract",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10775,
        "concept_version_id": 18260,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4290",
        "phenotype_version_id": 9508,
        "phenotype_name": "Primary Malignancy_biliary tract",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.1",
            "description": "Malignant neoplasm: Intrahepatic bile duct carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C24",
            "description": "Malignant neoplasm of other and unspecified parts of biliary tract",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10776,
        "concept_version_id": 18261,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4290",
        "phenotype_version_id": 9508,
        "phenotype_name": "Primary Malignancy_biliary tract",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.1",
            "description": "Malignant neoplasm: Intrahepatic bile duct carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C24",
            "description": "Malignant neoplasm of other and unspecified parts of biliary tract",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10777,
        "concept_version_id": 18262,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4290",
        "phenotype_version_id": 9508,
        "phenotype_name": "Primary Malignancy_biliary tract",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "B151.00",
            "description": "Malignant neoplasm of intrahepatic bile ducts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B151000",
            "description": "Malignant neoplasm of interlobular bile ducts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B151200",
            "description": "Malignant neoplasm of intrahepatic biliary passages",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B151400",
            "description": "Malignant neoplasm of intrahepatic gall duct",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B151z00",
            "description": "Malignant neoplasm of intrahepatic bile ducts NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B161.00",
            "description": "Malignant neoplasm of extrahepatic bile ducts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B161000",
            "description": "Malignant neoplasm of cystic duct",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B161100",
            "description": "Malignant neoplasm of hepatic duct",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B161200",
            "description": "Malignant neoplasm of common bile duct",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B161211",
            "description": "Carcinoma common bile duct",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B161300",
            "description": "Malignant neoplasm of sphincter of Oddi",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B161z00",
            "description": "Malignant neoplasm of extrahepatic bile ducts NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B162.00",
            "description": "Malignant neoplasm of ampulla of Vater",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B163.00",
            "description": "Malignant neoplasm, overlapping lesion of biliary tract",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D100",
            "description": "[M]Cholangiocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D111",
            "description": "[M]Bile duct carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D300",
            "description": "[M]Bile duct cystadenocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D700",
            "description": "[M]Combined hepatocellular carcinoma and cholangiocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D711",
            "description": "[M]Hepatocholangiocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE2vN",
            "description": "Malignant neoplasm of common bile duct",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10778,
        "concept_version_id": 18263,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4290",
        "phenotype_version_id": 9508,
        "phenotype_name": "Primary Malignancy_biliary tract",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.1",
            "description": "Malignant neoplasm: Intrahepatic bile duct carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C24",
            "description": "Malignant neoplasm of other and unspecified parts of biliary tract",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/g27s-6d42",
    "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": 9508,
        "version_name": "Primary Malignancy_biliary tract",
        "version_date": "2026-06-08T20:15:52.535084Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]