[
  {
    "phenotype_id": "PH4315",
    "phenotype_version_id": 9533,
    "name": "Primary Malignancy_Uterine",
    "definition": "Tumors or cancer of the UTERUS.\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": "2026-06-08T20:17:12.978879Z",
    "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": "2026-06-08T20:17:12.973575Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Primary malignant neoplasm of uterus (disorder)",
        "value": 218826
      }
    ],
    "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": 10947,
        "concept_version_id": 18432,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4315",
        "phenotype_version_id": 9533,
        "phenotype_name": "Primary Malignancy_Uterine",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1040",
            "description": "uterine/endometrial cancer",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10948,
        "concept_version_id": 18433,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4315",
        "phenotype_version_id": 9533,
        "phenotype_name": "Primary Malignancy_Uterine",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C54",
            "description": "Malignant neoplasm of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C55",
            "description": "Malignant neoplasm of uterus, part unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10949,
        "concept_version_id": 18434,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4315",
        "phenotype_version_id": 9533,
        "phenotype_name": "Primary Malignancy_Uterine",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C54",
            "description": "Malignant neoplasm of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C55",
            "description": "Malignant neoplasm of uterus, part unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10950,
        "concept_version_id": 18435,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4315",
        "phenotype_version_id": 9533,
        "phenotype_name": "Primary Malignancy_Uterine",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C54",
            "description": "Malignant neoplasm of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C55",
            "description": "Malignant neoplasm of uterus, part unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10951,
        "concept_version_id": 18436,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4315",
        "phenotype_version_id": 9533,
        "phenotype_name": "Primary Malignancy_Uterine",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C54",
            "description": "Malignant neoplasm of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C55",
            "description": "Malignant neoplasm of uterus, part unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10952,
        "concept_version_id": 18437,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4315",
        "phenotype_version_id": 9533,
        "phenotype_name": "Primary Malignancy_Uterine",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "B40..00",
            "description": "Malignant neoplasm of uterus, part unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B43..00",
            "description": "Malignant neoplasm of body of uterus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B430.00",
            "description": "Malignant neoplasm of corpus uteri, excluding isthmus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B430000",
            "description": "Malignant neoplasm of cornu of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B430100",
            "description": "Malignant neoplasm of fundus of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B430200",
            "description": "Malignant neoplasm of endometrium of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B430211",
            "description": "Malignant neoplasm of endometrium",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B430300",
            "description": "Malignant neoplasm of myometrium of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B430z00",
            "description": "Malignant neoplasm of corpus uteri NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B431.00",
            "description": "Malignant neoplasm of isthmus of uterine body",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B431000",
            "description": "Malignant neoplasm of lower uterine segment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B431z00",
            "description": "Malignant neoplasm of isthmus of uterine body NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B432.00",
            "description": "Malignant neoplasm of overlapping lesion of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B43y.00",
            "description": "Malignant neoplasm of other site of uterine body",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B43z.00",
            "description": "Malignant neoplasm of body of uterus NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV10417",
            "description": "[V]Personal history of malignant neoplasm of uterine body",
            "attributes": {
              "type": "prevalent"
            }
          }
        ]
      },
      {
        "concept_id": 10953,
        "concept_version_id": 18438,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4315",
        "phenotype_version_id": 9533,
        "phenotype_name": "Primary Malignancy_Uterine",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C54",
            "description": "Malignant neoplasm of corpus uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C55",
            "description": "Malignant neoplasm of uterus, part unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/5raq-7g58",
    "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": 9533,
        "version_name": "Primary Malignancy_Uterine",
        "version_date": "2026-06-08T20:17:12.988959Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]