[
  {
    "phenotype_id": "PH4331",
    "phenotype_version_id": 9549,
    "name": "Rheumatic valve dz",
    "definition": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta\\-hemolytic streptococci (GAS) that results in valvular damage.\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": "2026-06-08T20:17:58.462879Z",
    "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": "2026-06-08T20:17:58.457580Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Rheumatic disease of heart valve (disorder)",
        "value": 261239
      }
    ],
    "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": 11045,
        "concept_version_id": 18530,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4331",
        "phenotype_version_id": 9549,
        "phenotype_name": "Rheumatic valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1489",
            "description": "mitral stenosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11046,
        "concept_version_id": 18531,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4331",
        "phenotype_version_id": 9549,
        "phenotype_name": "Rheumatic valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I05",
            "description": "Rheumatic mitral valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I06",
            "description": "Rheumatic aortic valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I07",
            "description": "Rheumatic tricuspid valve diseases",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11047,
        "concept_version_id": 18532,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4331",
        "phenotype_version_id": 9549,
        "phenotype_name": "Rheumatic valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I05",
            "description": "Rheumatic mitral valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I06",
            "description": "Rheumatic aortic valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I07",
            "description": "Rheumatic tricuspid valve diseases",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11048,
        "concept_version_id": 18533,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4331",
        "phenotype_version_id": 9549,
        "phenotype_name": "Rheumatic valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I05",
            "description": "Rheumatic mitral valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I06",
            "description": "Rheumatic aortic valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I07",
            "description": "Rheumatic tricuspid valve diseases",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11049,
        "concept_version_id": 18534,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4331",
        "phenotype_version_id": 9549,
        "phenotype_name": "Rheumatic valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I05",
            "description": "Rheumatic mitral valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I06",
            "description": "Rheumatic aortic valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I07",
            "description": "Rheumatic tricuspid valve diseases",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11050,
        "concept_version_id": 18535,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4331",
        "phenotype_version_id": 9549,
        "phenotype_name": "Rheumatic valve dz",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G110.00",
            "description": "Mitral stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G110.11",
            "description": "Rheumatic mitral stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G111.00",
            "description": "Rheumatic mitral insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G11..11",
            "description": "Rheumatic mitral valve disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G111.11",
            "description": "Mitral incompetence - rheumatic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G111.12",
            "description": "Mitral regurgitation - rheumatic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G112.00",
            "description": "Mitral stenosis with insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G112.12",
            "description": "Mitral stenosis with incompetence",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G112.13",
            "description": "Mitral stenosis with regurgitation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G12..00",
            "description": "Rheumatic aortic valve disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G120.00",
            "description": "Rheumatic aortic stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G121.00",
            "description": "Rheumatic aortic insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G121.11",
            "description": "Aortic incompetence - rheumatic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G121.12",
            "description": "Aortic regurgitation - rheumatic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G122.00",
            "description": "Rheumatic aortic stenosis with insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G12z.00",
            "description": "Rheumatic aortic valve disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G140000",
            "description": "Rheumatic tricuspid stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G140100",
            "description": "Rheumatic tricuspid insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G140111",
            "description": "Tricuspid regurgitation - rheumatic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G140112",
            "description": "Tricuspid incompetence - rheumatic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G140200",
            "description": "Rheumatic tricuspid stenosis and insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G14021X",
            "description": "Rheumatic tricuspid stenosis and regurgitation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G14021Y",
            "description": "Rheumatic tricuspid stenosis and incompetence",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G140z00",
            "description": "Rheumatic tricuspid valve disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G141.00",
            "description": "Rheumatic pulmonary valve disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G141000",
            "description": "Rheumatic pulmonary stenosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G141100",
            "description": "Rheumatic pulmonary insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G141200",
            "description": "Rheumatic pulmonary stenosis and insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G141z00",
            "description": "Rheumatic pulmonary valve disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G14z.11",
            "description": "Rheumatic valvulitis, chronic NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Gyu1100",
            "description": "[X]Other rheumatic aortic valve diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0Ua",
            "description": "Rheumatic endocarditis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0UZ",
            "description": "Mitral stenosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/jw3w-0857",
    "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": 9549,
        "version_name": "Rheumatic valve dz",
        "version_date": "2026-06-08T20:17:58.473206Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]