[
  {
    "phenotype_id": "PH4250",
    "phenotype_version_id": 9468,
    "name": "Nonrheumatic mitral valve disorders",
    "definition": "Abnormalities of a valve in the heart that are not caused by or related to rheumatism and affect the way that the blood flows from the heart.\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": "2026-06-08T20:13:41.286911Z",
    "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": "2026-06-08T20:13:41.280937Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Non-rheumatic mitral valve disease (disorder)",
        "value": 652093
      }
    ],
    "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": 10542,
        "concept_version_id": 18027,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4250",
        "phenotype_version_id": 9468,
        "phenotype_name": "Nonrheumatic mitral valve disorders",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1488",
            "description": "mitral valve prolapse",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10543,
        "concept_version_id": 18028,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4250",
        "phenotype_version_id": 9468,
        "phenotype_name": "Nonrheumatic mitral valve disorders",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I34",
            "description": "Nonrheumatic mitral valve disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10544,
        "concept_version_id": 18029,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4250",
        "phenotype_version_id": 9468,
        "phenotype_name": "Nonrheumatic mitral valve disorders",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I34",
            "description": "Nonrheumatic mitral valve disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10545,
        "concept_version_id": 18030,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4250",
        "phenotype_version_id": 9468,
        "phenotype_name": "Nonrheumatic mitral valve disorders",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I34",
            "description": "Nonrheumatic mitral valve disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10546,
        "concept_version_id": 18031,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4250",
        "phenotype_version_id": 9468,
        "phenotype_name": "Nonrheumatic mitral valve disorders",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I34",
            "description": "Nonrheumatic mitral valve disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10547,
        "concept_version_id": 18032,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4250",
        "phenotype_version_id": 9468,
        "phenotype_name": "Nonrheumatic mitral valve disorders",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G11..00",
            "description": "Mitral valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G114.00",
            "description": "Ruptured mitral valve cusp",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G11z.00",
            "description": "Mitral valve disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540.00",
            "description": "Mitral valve incompetence",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540000",
            "description": "Mitral incompetence, non-rheumatic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540100",
            "description": "Mitral incompetence, cause unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540.12",
            "description": "Mitral valve insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540.14",
            "description": "Mitral valve regurgitation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540.15",
            "description": "Mitral valve prolapse",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540.16",
            "description": "Mitral regurgitation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540200",
            "description": "Mitral valve prolapse",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540300",
            "description": "Mitral valve leaf prolapse",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G540z00",
            "description": "Mitral valve disorders NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Gyu1000",
            "description": "[X]Other mitral valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Gyu5500",
            "description": "[X]Other nonrheumatic mitral valve disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X200u",
            "description": "Mitral valve prolapse",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/jnfk-7d50",
    "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": 9468,
        "version_name": "Nonrheumatic mitral valve disorders",
        "version_date": "2026-06-08T20:13:41.297685Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]