[
  {
    "phenotype_id": "PH4295",
    "phenotype_version_id": 9513,
    "name": "Primary Malignancy_Breast",
    "definition": "A thoracic cancer that originates in the mammary gland.\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": "2026-06-08T20:16:08.128027Z",
    "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": "2026-06-08T20:16:08.122073Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Malignant neoplasm of breast (disorder)",
        "value": 550570
      }
    ],
    "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": 10807,
        "concept_version_id": 18292,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4295",
        "phenotype_version_id": 9513,
        "phenotype_name": "Primary Malignancy_Breast",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1002",
            "description": "breast cancer",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10808,
        "concept_version_id": 18293,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4295",
        "phenotype_version_id": 9513,
        "phenotype_name": "Primary Malignancy_Breast",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C50",
            "description": "Malignant neoplasm of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D05",
            "description": "Carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10809,
        "concept_version_id": 18294,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4295",
        "phenotype_version_id": 9513,
        "phenotype_name": "Primary Malignancy_Breast",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C50",
            "description": "Malignant neoplasm of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D05",
            "description": "Carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10810,
        "concept_version_id": 18295,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4295",
        "phenotype_version_id": 9513,
        "phenotype_name": "Primary Malignancy_Breast",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C50",
            "description": "Malignant neoplasm of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D05",
            "description": "Carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10811,
        "concept_version_id": 18296,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4295",
        "phenotype_version_id": 9513,
        "phenotype_name": "Primary Malignancy_Breast",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C50",
            "description": "Malignant neoplasm of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D05",
            "description": "Carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10812,
        "concept_version_id": 18297,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4295",
        "phenotype_version_id": 9513,
        "phenotype_name": "Primary Malignancy_Breast",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "B34..00",
            "description": "Malignant neoplasm of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B340.00",
            "description": "Malignant neoplasm of nipple and areola of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B340000",
            "description": "Malignant neoplasm of nipple of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B340100",
            "description": "Malignant neoplasm of areola of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B340z00",
            "description": "Malignant neoplasm of nipple or areola of female breast NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B341.00",
            "description": "Malignant neoplasm of central part of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B34..11",
            "description": "Ca female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B342.00",
            "description": "Malignant neoplasm of upper-inner quadrant of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B343.00",
            "description": "Malignant neoplasm of lower-inner quadrant of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B344.00",
            "description": "Malignant neoplasm of upper-outer quadrant of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B345.00",
            "description": "Malignant neoplasm of lower-outer quadrant of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B346.00",
            "description": "Malignant neoplasm of axillary tail of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B347.00",
            "description": "Malignant neoplasm, overlapping lesion of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B34y.00",
            "description": "Malignant neoplasm of other site of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B34y000",
            "description": "Malignant neoplasm of ectopic site of female breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B34yz00",
            "description": "Malignant neoplasm of other site of female breast NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B34z.00",
            "description": "Malignant neoplasm of female breast NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B35..00",
            "description": "Malignant neoplasm of male breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B350.00",
            "description": "Malignant neoplasm of nipple and areola of male breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B350000",
            "description": "Malignant neoplasm of nipple of male breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B350100",
            "description": "Malignant neoplasm of areola of male breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B35z.00",
            "description": "Malignant neoplasm of other site of male breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B35z000",
            "description": "Malignant neoplasm of ectopic site of male breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B35zz00",
            "description": "Malignant neoplasm of male breast NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B36..00",
            "description": "Local recurrence of malignant tumour of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B830.00",
            "description": "Carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B830000",
            "description": "Lobular carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B830100",
            "description": "Intraductal carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB91.00",
            "description": "[M]Infiltrating duct carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB91000",
            "description": "[M]Intraductal papillary adenocarcinoma with invasion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB91100",
            "description": "[M]Infiltrating duct and lobular carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB91.11",
            "description": "[M]Duct carcinoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB92.00",
            "description": "[M]Comedocarcinoma, noninfiltrating",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB93.00",
            "description": "[M]Comedocarcinoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB94.00",
            "description": "[M]Juvenile breast carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB94.11",
            "description": "[M]Secretory breast carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB96.00",
            "description": "[M]Noninfiltrating intraductal papillary adenocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB9J.00",
            "description": "[M]Paget's disease, mammary",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB9J.11",
            "description": "[M]Paget's disease, breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB9K.00",
            "description": "[M]Paget's disease and infiltrating breast duct carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB9K000",
            "description": "[M]Paget's disease and intraductal carcinoma of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB9M.00",
            "description": "[M]Intracystic carcinoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Byu6.00",
            "description": "[X]Malignant neoplasm of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ByuFG00",
            "description": "[X]Other carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X78WV",
            "description": "Lobular carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X78WW",
            "description": "Intraductal carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaFr8",
            "description": "Local recurrence of malignant tumour of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV10300",
            "description": "[V]Personal history of malignant neoplasm of breast",
            "attributes": {
              "type": "prevalent"
            }
          }
        ]
      },
      {
        "concept_id": 10813,
        "concept_version_id": 18298,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4295",
        "phenotype_version_id": 9513,
        "phenotype_name": "Primary Malignancy_Breast",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C50",
            "description": "Malignant neoplasm of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D05",
            "description": "Carcinoma in situ of breast",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/q1ck-0h65",
    "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": 9513,
        "version_name": "Primary Malignancy_Breast",
        "version_date": "2026-06-08T20:16:08.139462Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]