[
  {
    "phenotype_id": "PH4143",
    "phenotype_version_id": 9361,
    "name": "Carcinoma in situ_cervical",
    "definition": "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.\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": "2026-06-08T20:07:58.758509Z",
    "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": "2026-06-08T20:07:58.753784Z",
    "sex": [
      {
        "name": "Female",
        "value": "2"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Carcinoma in situ of uterine cervix (disorder)",
        "value": 649041
      }
    ],
    "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": 9882,
        "concept_version_id": 17367,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4143",
        "phenotype_version_id": 9361,
        "phenotype_name": "Carcinoma in situ_cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1554",
            "description": "cervical intra-epithelial neoplasia (cin) / precancerous cells cervix",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9883,
        "concept_version_id": 17368,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4143",
        "phenotype_version_id": 9361,
        "phenotype_name": "Carcinoma in situ_cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D06",
            "description": "Carcinoma in situ of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N87",
            "description": "Dysplasia of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9884,
        "concept_version_id": 17369,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4143",
        "phenotype_version_id": 9361,
        "phenotype_name": "Carcinoma in situ_cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D06",
            "description": "Carcinoma in situ of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N87",
            "description": "Dysplasia of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9885,
        "concept_version_id": 17370,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4143",
        "phenotype_version_id": 9361,
        "phenotype_name": "Carcinoma in situ_cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D06",
            "description": "Carcinoma in situ of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N87",
            "description": "Dysplasia of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9886,
        "concept_version_id": 17371,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4143",
        "phenotype_version_id": 9361,
        "phenotype_name": "Carcinoma in situ_cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D06",
            "description": "Carcinoma in situ of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N87",
            "description": "Dysplasia of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9887,
        "concept_version_id": 17372,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4143",
        "phenotype_version_id": 9361,
        "phenotype_name": "Carcinoma in situ_cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "4K2..11",
            "description": "Dyskaryosis on cervical smear",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4K2J.00",
            "description": "Cervical smear - low grade dyskaryosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4K2K.00",
            "description": "Cervical smear - high grade dyskaryosis (moderate)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4K2L.00",
            "description": "Cervical smear - high grade dyskaryosis (severe)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4K2N.00",
            "description": "Cervical smear - ?endocervical type glandular neoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4K2P.00",
            "description": "Cervical smear - ?non-cervical type glandular neoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B831.00",
            "description": "Carcinoma in situ of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B831000",
            "description": "Carcinoma in situ of endocervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B831100",
            "description": "Carcinoma in situ of exocervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B831.11",
            "description": "CIN III - carcinoma in situ of cervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B831.12",
            "description": "Cervical intraepithelial neoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B831.13",
            "description": "Cervical intraepithelial neoplasia grade III",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ByuFA00",
            "description": "[X]Carcinoma in situ of other parts of cervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551.00",
            "description": "Dysplasia of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551000",
            "description": "Anaplasia of cervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551100",
            "description": "Epidermidization of cervix",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551.12",
            "description": "CIN I - II, cervical dysplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551300",
            "description": "Mild cervical dysplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551311",
            "description": "Cervical intraepithelial neoplasia grade I",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551400",
            "description": "Moderate cervical dysplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551411",
            "description": "Cervical intraepithelial neoplasia grade II",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551X00",
            "description": "Severe cervical dysplasia, not elsewhere classified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K551z00",
            "description": "Dysplasia of cervix NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "R150000",
            "description": "[D]Dyskaryotic cervical smear",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xaafi",
            "description": "Cervical smear - high grade dyskaryosis (moderate)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xaafj",
            "description": "Cervical smear - high grade dyskaryosis (severe)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xaafo",
            "description": "Cervical smear - features of endocervical type glandular neoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xaafp",
            "description": "Cervical smear - features of non-cervical type glandular neoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaaU7",
            "description": "Cervical smear - low grade dyskaryosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaIyK",
            "description": "[V]Personal history of mild cervical dysplasia",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaIyL",
            "description": "[V]Personal history of moderate cervical dysplasia",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaIyM",
            "description": "[V]Personal history of severe cervical dysplasia",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaIyN",
            "description": "[V]Personal history of cervical intraepithelial neoplasia, grade III",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XE277",
            "description": "Cervical smear result",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE2QO",
            "description": "Dysplasia of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV13B00",
            "description": "[V]Personal history of mild cervical dysplasia",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "ZV13B11",
            "description": "[V]PH of cervical intraepithelial neoplasia, grade I",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV13C00",
            "description": "[V]Personal history of moderate cervical dysplasia",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "ZV13C11",
            "description": "[V]PH of cervical intraepithelial neoplasia grade II",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV13D00",
            "description": "[V]Personal history of severe cervical dysplasia",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "ZV13E00",
            "description": "[V]PH of cervical intraepithelial neoplasia, grade III",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9888,
        "concept_version_id": 17373,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4143",
        "phenotype_version_id": 9361,
        "phenotype_name": "Carcinoma in situ_cervical",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D06",
            "description": "Carcinoma in situ of cervix uteri",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N87",
            "description": "Dysplasia of cervix uteri",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/h0cx-gx56",
    "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": 9361,
        "version_name": "Carcinoma in situ_cervical",
        "version_date": "2026-06-08T20:07:58.770395Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]