[
  {
    "phenotype_id": "PH4296",
    "phenotype_version_id": 9514,
    "name": "Primary Malignancy_Cervical",
    "definition": "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium.\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": "2026-06-08T20:16:10.874002Z",
    "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": "2026-06-08T20:16:10.868303Z",
    "sex": [
      {
        "name": "Female",
        "value": "2"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Malignant tumor of cervix (disorder)",
        "value": 513797
      }
    ],
    "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": 10814,
        "concept_version_id": 18299,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4296",
        "phenotype_version_id": 9514,
        "phenotype_name": "Primary Malignancy_Cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1041",
            "description": "cervical cancer",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10815,
        "concept_version_id": 18300,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4296",
        "phenotype_version_id": 9514,
        "phenotype_name": "Primary Malignancy_Cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C53",
            "description": "Malignant neoplasm of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10816,
        "concept_version_id": 18301,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4296",
        "phenotype_version_id": 9514,
        "phenotype_name": "Primary Malignancy_Cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C53",
            "description": "Malignant neoplasm of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10817,
        "concept_version_id": 18302,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4296",
        "phenotype_version_id": 9514,
        "phenotype_name": "Primary Malignancy_Cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C53",
            "description": "Malignant neoplasm of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10818,
        "concept_version_id": 18303,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4296",
        "phenotype_version_id": 9514,
        "phenotype_name": "Primary Malignancy_Cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C53",
            "description": "Malignant neoplasm of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10819,
        "concept_version_id": 18304,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4296",
        "phenotype_version_id": 9514,
        "phenotype_name": "Primary Malignancy_Cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "B41..00",
            "description": "Malignant neoplasm of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B410.00",
            "description": "Malignant neoplasm of endocervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B410000",
            "description": "Malignant neoplasm of endocervical canal",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B410100",
            "description": "Malignant neoplasm of endocervical gland",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B410z00",
            "description": "Malignant neoplasm of endocervix NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B411.00",
            "description": "Malignant neoplasm of exocervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B41..11",
            "description": "Cervical carcinoma (uterus)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B412.00",
            "description": "Malignant neoplasm, overlapping lesion of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B41y.00",
            "description": "Malignant neoplasm of other site of cervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B41y000",
            "description": "Malignant neoplasm of cervical stump",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B41y100",
            "description": "Malignant neoplasm of squamocolumnar junction of cervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B41yz00",
            "description": "Malignant neoplasm of other site of cervix NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B41z.00",
            "description": "Malignant neoplasm of cervix uteri NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV10411",
            "description": "[V]Personal history of malignant neoplasm of cervix uteri",
            "attributes": {
              "type": "prevalent"
            }
          }
        ]
      },
      {
        "concept_id": 10820,
        "concept_version_id": 18305,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4296",
        "phenotype_version_id": 9514,
        "phenotype_name": "Primary Malignancy_Cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C53",
            "description": "Malignant neoplasm of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/mx0g-rp69",
    "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": 9514,
        "version_name": "Primary Malignancy_Cervical",
        "version_date": "2026-06-08T20:16:10.885621Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]