[
  {
    "phenotype_id": "PH4293",
    "phenotype_version_id": 9511,
    "name": "Primary Malignancy_colorectal and anus",
    "definition": "UKB 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": "2026-06-08T20:16:01.599601Z",
    "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": "2026-06-08T20:16:01.594098Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": null,
    "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": 10793,
        "concept_version_id": 18278,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4293",
        "phenotype_version_id": 9511,
        "phenotype_name": "Primary Malignancy_colorectal and anus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1020",
            "description": "large bowel cancer/colorectal cancer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "1022",
            "description": "colon cancer/sigmoid cancer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "1023",
            "description": "rectal cancer",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10794,
        "concept_version_id": 18279,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4293",
        "phenotype_version_id": 9511,
        "phenotype_name": "Primary Malignancy_colorectal and anus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C18",
            "description": "Malignant neoplasm of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C19",
            "description": "Malignant neoplasm of rectosigmoid junction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C20",
            "description": "Malignant neoplasm of rectum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C21",
            "description": "Malignant neoplasm of anus and anal canal",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10795,
        "concept_version_id": 18280,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4293",
        "phenotype_version_id": 9511,
        "phenotype_name": "Primary Malignancy_colorectal and anus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C18",
            "description": "Malignant neoplasm of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C19",
            "description": "Malignant neoplasm of rectosigmoid junction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C20",
            "description": "Malignant neoplasm of rectum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C21",
            "description": "Malignant neoplasm of anus and anal canal",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10796,
        "concept_version_id": 18281,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4293",
        "phenotype_version_id": 9511,
        "phenotype_name": "Primary Malignancy_colorectal and anus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C18",
            "description": "Malignant neoplasm of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C19",
            "description": "Malignant neoplasm of rectosigmoid junction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C20",
            "description": "Malignant neoplasm of rectum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C21",
            "description": "Malignant neoplasm of anus and anal canal",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10797,
        "concept_version_id": 18282,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4293",
        "phenotype_version_id": 9511,
        "phenotype_name": "Primary Malignancy_colorectal and anus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C18",
            "description": "Malignant neoplasm of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C19",
            "description": "Malignant neoplasm of rectosigmoid junction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C20",
            "description": "Malignant neoplasm of rectum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C21",
            "description": "Malignant neoplasm of anus and anal canal",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10798,
        "concept_version_id": 18283,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4293",
        "phenotype_version_id": 9511,
        "phenotype_name": "Primary Malignancy_colorectal and anus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "B13..00",
            "description": "Malignant neoplasm of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B130.00",
            "description": "Malignant neoplasm of hepatic flexure of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B131.00",
            "description": "Malignant neoplasm of transverse colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B132.00",
            "description": "Malignant neoplasm of descending colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B133.00",
            "description": "Malignant neoplasm of sigmoid colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B134.00",
            "description": "Malignant neoplasm of caecum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B134.11",
            "description": "Carcinoma of caecum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B135.00",
            "description": "Malignant neoplasm of appendix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B136.00",
            "description": "Malignant neoplasm of ascending colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B137.00",
            "description": "Malignant neoplasm of splenic flexure of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B138.00",
            "description": "Malignant neoplasm, overlapping lesion of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B139.00",
            "description": "Hereditary nonpolyposis colon cancer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B13y.00",
            "description": "Malignant neoplasm of other specified sites of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B13z.00",
            "description": "Malignant neoplasm of colon NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B13z.11",
            "description": "Colonic cancer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B14..00",
            "description": "Malignant neoplasm of rectum, rectosigmoid junction and anus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B140.00",
            "description": "Malignant neoplasm of rectosigmoid junction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B141.00",
            "description": "Malignant neoplasm of rectum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B141.11",
            "description": "Carcinoma of rectum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B141.12",
            "description": "Rectal carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B142.00",
            "description": "Malignant neoplasm of anal canal",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B142000",
            "description": "Malignant neoplasm of cloacogenic zone",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B142.11",
            "description": "Anal carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B143.00",
            "description": "Malignant neoplasm of anus unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B14y.00",
            "description": "Malig neop other site rectum, rectosigmoid junction and anus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B14z.00",
            "description": "Malignant neoplasm rectum,rectosigmoid junction and anus NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B1z0.11",
            "description": "Cancer of bowel",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaFsw",
            "description": "Hereditary nonpolyposis colon cancer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1vV",
            "description": "Malignant neoplasm of colon NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV10011",
            "description": "[V]Personal history of malignant neoplasm of anus",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "ZV10014",
            "description": "[V]Personal history of malignant neoplasm of large intestine",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "ZV10017",
            "description": "[V]Personal history of malignant neoplasm of rectum",
            "attributes": {
              "type": "prevalent"
            }
          }
        ]
      },
      {
        "concept_id": 10799,
        "concept_version_id": 18284,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4293",
        "phenotype_version_id": 9511,
        "phenotype_name": "Primary Malignancy_colorectal and anus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C18",
            "description": "Malignant neoplasm of colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C19",
            "description": "Malignant neoplasm of rectosigmoid junction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C20",
            "description": "Malignant neoplasm of rectum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C21",
            "description": "Malignant neoplasm of anus and anal canal",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/n4vt-0s39",
    "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": 9511,
        "version_name": "Primary Malignancy_colorectal and anus",
        "version_date": "2026-06-08T20:16:01.612128Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]