[
  {
    "phenotype_id": "PH4192",
    "phenotype_version_id": 9410,
    "name": "Gout",
    "definition": "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.\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": "2026-06-08T20:10:39.916773Z",
    "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": "2026-06-08T20:10:39.907954Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Inflammatory disorder due to increased blood urate level (disorder)",
        "value": 760864
      }
    ],
    "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": 10202,
        "concept_version_id": 17687,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4192",
        "phenotype_version_id": 9410,
        "phenotype_name": "Gout",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1466",
            "description": "gout",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10203,
        "concept_version_id": 17688,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4192",
        "phenotype_version_id": 9410,
        "phenotype_name": "Gout",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M10",
            "description": "Gout",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M14.0",
            "description": "Gouty arthropathy due to enzyme defects and other inherited disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10204,
        "concept_version_id": 17689,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4192",
        "phenotype_version_id": 9410,
        "phenotype_name": "Gout",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M10",
            "description": "Gout",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M14.0",
            "description": "Gouty arthropathy due to enzyme defects and other inherited disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10205,
        "concept_version_id": 17690,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4192",
        "phenotype_version_id": 9410,
        "phenotype_name": "Gout",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M10",
            "description": "Gout",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M14.0",
            "description": "Gouty arthropathy due to enzyme defects and other inherited disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10206,
        "concept_version_id": 17691,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4192",
        "phenotype_version_id": 9410,
        "phenotype_name": "Gout",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M10",
            "description": "Gout",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M14.0",
            "description": "Gouty arthropathy due to enzyme defects and other inherited disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10207,
        "concept_version_id": 17692,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4192",
        "phenotype_version_id": 9410,
        "phenotype_name": "Gout",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1443.00",
            "description": "H/O: gout",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "2D52.00",
            "description": "O/E - auricle of ear - tophi",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "669..00",
            "description": "Gout monitoring",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "6691.00",
            "description": "Initial gout assessment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "6692.00",
            "description": "Follow-up gout assessment",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "6693.00",
            "description": "Joints gout affected",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "6695.00",
            "description": "Date gout treatment started",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "6696.00",
            "description": "Date of last gout attack",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "6697.00",
            "description": "Gout associated problems",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "669Z.00",
            "description": "Gout monitoring NOS",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "C34..00",
            "description": "Gout",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C340.00",
            "description": "Gouty arthropathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C341.00",
            "description": "Gouty nephropathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C341z00",
            "description": "Gouty nephropathy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C342.00",
            "description": "Idiopathic gout",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C344.00",
            "description": "Drug-induced gout",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C345.00",
            "description": "Gout due to impairment of renal function",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34y.00",
            "description": "Other specified gouty manifestation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34y000",
            "description": "Gouty tophi of ear",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34y1",
            "description": "Gouty tophi of heart",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34y100",
            "description": "Gouty tophi of heart",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34y200",
            "description": "Gouty tophi of other sites",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34y300",
            "description": "Gouty iritis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34y400",
            "description": "Gouty neuritis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34y500",
            "description": "Gouty tophi of hand",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34yz00",
            "description": "Other specified gouty manifestation NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C34z.00",
            "description": "Gout NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G557300",
            "description": "Gouty tophi of heart",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023.00",
            "description": "Gouty arthritis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023100",
            "description": "Gouty arthritis of the shoulder region",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023200",
            "description": "Gouty arthritis of the upper arm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023300",
            "description": "Gouty arthritis of the forearm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023400",
            "description": "Gouty arthritis of the hand",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023600",
            "description": "Gouty arthritis of the lower leg",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023700",
            "description": "Gouty arthritis of the ankle and foot",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023800",
            "description": "Gouty arthritis of toe",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023x00",
            "description": "Gouty arthritis of multiple sites",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023y00",
            "description": "Gouty arthritis of other specified site",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N023z00",
            "description": "Gouty arthritis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Nyu1700",
            "description": "[X]Other secondary gout",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaNXG",
            "description": "Gouty arthritis of toe",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/769z-z086",
    "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": 9410,
        "version_name": "Gout",
        "version_date": "2026-06-08T20:10:39.928204Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]