[
  {
    "phenotype_id": "PH4298",
    "phenotype_version_id": 9516,
    "name": "Primary Malignancy_Liver",
    "definition": "nuA benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts.\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": "2026-06-08T20:16:16.871485Z",
    "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": "2026-06-08T20:16:16.863395Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Malignant neoplasm of liver (disorder)",
        "value": 661349
      }
    ],
    "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": 10828,
        "concept_version_id": 18313,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4298",
        "phenotype_version_id": 9516,
        "phenotype_name": "Primary Malignancy_Liver",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1024",
            "description": "liver/hepatocellular cancer",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10829,
        "concept_version_id": 18314,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4298",
        "phenotype_version_id": 9516,
        "phenotype_name": "Primary Malignancy_Liver",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.0",
            "description": "Malignant neoplasm: Liver cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.2",
            "description": "Malignant neoplasm: Hepatoblastoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.3",
            "description": "Malignant neoplasm: Angiosarcoma of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.4",
            "description": "Malignant neoplasm: Other sarcomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.7",
            "description": "Malignant neoplasm: Other specified carcinomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.9",
            "description": "Malignant neoplasm: Liver, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10830,
        "concept_version_id": 18315,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4298",
        "phenotype_version_id": 9516,
        "phenotype_name": "Primary Malignancy_Liver",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.0",
            "description": "Malignant neoplasm: Liver cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.2",
            "description": "Malignant neoplasm: Hepatoblastoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.3",
            "description": "Malignant neoplasm: Angiosarcoma of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.4",
            "description": "Malignant neoplasm: Other sarcomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.7",
            "description": "Malignant neoplasm: Other specified carcinomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.9",
            "description": "Malignant neoplasm: Liver, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10831,
        "concept_version_id": 18316,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4298",
        "phenotype_version_id": 9516,
        "phenotype_name": "Primary Malignancy_Liver",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.0",
            "description": "Malignant neoplasm: Liver cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.2",
            "description": "Malignant neoplasm: Hepatoblastoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.3",
            "description": "Malignant neoplasm: Angiosarcoma of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.4",
            "description": "Malignant neoplasm: Other sarcomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.7",
            "description": "Malignant neoplasm: Other specified carcinomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.9",
            "description": "Malignant neoplasm: Liver, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10832,
        "concept_version_id": 18317,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4298",
        "phenotype_version_id": 9516,
        "phenotype_name": "Primary Malignancy_Liver",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.0",
            "description": "Malignant neoplasm: Liver cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.2",
            "description": "Malignant neoplasm: Hepatoblastoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.3",
            "description": "Malignant neoplasm: Angiosarcoma of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.4",
            "description": "Malignant neoplasm: Other sarcomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.7",
            "description": "Malignant neoplasm: Other specified carcinomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.9",
            "description": "Malignant neoplasm: Liver, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10833,
        "concept_version_id": 18318,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4298",
        "phenotype_version_id": 9516,
        "phenotype_name": "Primary Malignancy_Liver",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "B150.00",
            "description": "Primary malignant neoplasm of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B150000",
            "description": "Primary carcinoma of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B150100",
            "description": "Hepatoblastoma of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B150200",
            "description": "Primary angiosarcoma of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B150300",
            "description": "Hepatocellular carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B150z00",
            "description": "Primary malignant neoplasm of liver NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B152.00",
            "description": "Malignant neoplasm of liver unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D500",
            "description": "[M]Hepatocellular carcinoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D511",
            "description": "[M]Hepatoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D512",
            "description": "[M]Hepatoma, malignant",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D513",
            "description": "[M]Liver cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D700",
            "description": "[M]Combined hepatocellular carcinoma and cholangiocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D711",
            "description": "[M]Hepatocholangiocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB5D800",
            "description": "[M]Hepatocellular carcinoma, fibrolamellar",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Byu1100",
            "description": "[X]Other specified carcinomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV10015",
            "description": "[V]Personal history of malignant neoplasm of liver",
            "attributes": {
              "type": "prevalent"
            }
          }
        ]
      },
      {
        "concept_id": 10834,
        "concept_version_id": 18319,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4298",
        "phenotype_version_id": 9516,
        "phenotype_name": "Primary Malignancy_Liver",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C22.0",
            "description": "Malignant neoplasm: Liver cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.2",
            "description": "Malignant neoplasm: Hepatoblastoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.3",
            "description": "Malignant neoplasm: Angiosarcoma of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.4",
            "description": "Malignant neoplasm: Other sarcomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.7",
            "description": "Malignant neoplasm: Other specified carcinomas of liver",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C22.9",
            "description": "Malignant neoplasm: Liver, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/kexn-1y72",
    "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": 9516,
        "version_name": "Primary Malignancy_Liver",
        "version_date": "2026-06-08T20:16:16.878246Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]