[
  {
    "phenotype_id": "PH4241",
    "phenotype_version_id": 9459,
    "name": "Multiple valve dz",
    "definition": "The combination of stenotic or regurgitant lesions occurring on ?2 cardiac valves.\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": "2026-06-08T20:13:13.838836Z",
    "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": "2026-06-08T20:13:13.831848Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Multiple valve disease (disorder)",
        "value": 175890
      }
    ],
    "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": "ICD10 codes",
        "value": 4
      },
      {
        "name": "Read codes v3",
        "value": 6
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 10489,
        "concept_version_id": 17974,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4241",
        "phenotype_version_id": 9459,
        "phenotype_name": "Multiple valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I08",
            "description": "Multiple valve diseases",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10490,
        "concept_version_id": 17975,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4241",
        "phenotype_version_id": 9459,
        "phenotype_name": "Multiple valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I08",
            "description": "Multiple valve diseases",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10491,
        "concept_version_id": 17976,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4241",
        "phenotype_version_id": 9459,
        "phenotype_name": "Multiple valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I08",
            "description": "Multiple valve diseases",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10492,
        "concept_version_id": 17977,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4241",
        "phenotype_version_id": 9459,
        "phenotype_name": "Multiple valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I08",
            "description": "Multiple valve diseases",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10493,
        "concept_version_id": 17978,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4241",
        "phenotype_version_id": 9459,
        "phenotype_name": "Multiple valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G13..00",
            "description": "Diseases of mitral and aortic valves",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G130.00",
            "description": "Mitral and aortic stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G131.00",
            "description": "Mitral stenosis and aortic insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G131.13",
            "description": "Mitral stenosis and aortic incompetence",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G131.14",
            "description": "Mitral stenosis and aortic regurgitation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G132.00",
            "description": "Mitral insufficiency and aortic stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G132.12",
            "description": "Mitral incompetence and aortic stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G132.13",
            "description": "Mitral regurgitation and aortic stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G133.00",
            "description": "Mitral and aortic incompetence",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G133.11",
            "description": "Mitral and aortic insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G133.12",
            "description": "Mitral and aortic regurgitation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G13y.00",
            "description": "Multiple mitral and aortic valve involvement",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G13z.00",
            "description": "Mitral and aortic valve disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G544.00",
            "description": "Multiple valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G544000",
            "description": "Disorders of both aortic and tricuspid valves",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G544100",
            "description": "Disorders of both mitral and tricuspid valves",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G544200",
            "description": "Combined disorders of mitral, aortic and tricuspid valves",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G544X00",
            "description": "Multiple valve disease, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Gyu5D00",
            "description": "[X]Multiple valve disorders/diseases CE",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/0k83-ef59",
    "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": 9459,
        "version_name": "Multiple valve dz",
        "version_date": "2026-06-08T20:13:13.849768Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]