[
  {
    "phenotype_id": "PH4223",
    "phenotype_version_id": 9441,
    "name": "Leiomyoma of uterus",
    "definition": "A benign smooth muscle neoplasm arising from the body 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": "2026-06-08T20:12:17.745298Z",
    "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": "2026-06-08T20:12:17.738058Z",
    "sex": [
      {
        "name": "Female",
        "value": "2"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Uterine leiomyoma (disorder)",
        "value": 175286
      }
    ],
    "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": 10380,
        "concept_version_id": 17865,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4223",
        "phenotype_version_id": 9441,
        "phenotype_name": "Leiomyoma of uterus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1351",
            "description": "uterine fibroids",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10381,
        "concept_version_id": 17866,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4223",
        "phenotype_version_id": 9441,
        "phenotype_name": "Leiomyoma of uterus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D25",
            "description": "Leiomyoma of uterus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10382,
        "concept_version_id": 17867,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4223",
        "phenotype_version_id": 9441,
        "phenotype_name": "Leiomyoma of uterus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D25",
            "description": "Leiomyoma of uterus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10383,
        "concept_version_id": 17868,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4223",
        "phenotype_version_id": 9441,
        "phenotype_name": "Leiomyoma of uterus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D25",
            "description": "Leiomyoma of uterus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10384,
        "concept_version_id": 17869,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4223",
        "phenotype_version_id": 9441,
        "phenotype_name": "Leiomyoma of uterus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D25",
            "description": "Leiomyoma of uterus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10385,
        "concept_version_id": 17870,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4223",
        "phenotype_version_id": 9441,
        "phenotype_name": "Leiomyoma of uterus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "7A54A00",
            "description": "Perc embolisation of uterine fibroid using fluoroscopic guid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7E06111",
            "description": "Excision fibroid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7E0DC00",
            "description": "Transcervical resection of fibroid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B78..00",
            "description": "Uterine leiomyoma - fibroids",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B780.00",
            "description": "Submucous uterine leiomyoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B781.00",
            "description": "Intramural uterine leiomyoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B78..11",
            "description": "Fibroids",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B781.11",
            "description": "Mural fibroids",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B782.00",
            "description": "Subserous uterine leiomyoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B78z.00",
            "description": "Uterine leiomyoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBK0.00",
            "description": "[M]Leiomyomatous neoplasms",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBK0000",
            "description": "[M]Leiomyoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBK0011",
            "description": "[M]Fibroid uterus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBK0300",
            "description": "[M]Epithelioid leiomyoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBK0500",
            "description": "[M]Cellular leiomyoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBK0600",
            "description": "[M]Bizarre leiomyoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBK0z00",
            "description": "[M]Leiomyomatous neoplasm NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaQYZ",
            "description": "Percutaneous embolisation of uterine fibroid using fluoroscopic guidance",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10386,
        "concept_version_id": 17871,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4223",
        "phenotype_version_id": 9441,
        "phenotype_name": "Leiomyoma of uterus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D25",
            "description": "Leiomyoma of uterus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/dpfh-ct98",
    "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": 9441,
        "version_name": "Leiomyoma of uterus",
        "version_date": "2026-06-08T20:12:17.756958Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]