[
  {
    "phenotype_id": "PH4333",
    "phenotype_version_id": 9551,
    "name": "Sarcoidosis",
    "definition": "An idiopathic inflammatory disorder characterized by the formation of non\\-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.\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": "2026-06-08T20:18:03.980893Z",
    "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": "2026-06-08T20:18:03.975039Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Sarcoidosis (disorder)",
        "value": 137410
      }
    ],
    "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": "UKBioBank codes",
        "value": 12
      },
      {
        "name": "Non-standard codes",
        "value": 13
      },
      {
        "name": "Read codes v3",
        "value": 6
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 11057,
        "concept_version_id": 18542,
        "concept_name": "Recent medication for sarcoidosis",
        "coding_system": {
          "id": 13,
          "name": "Non-standard codes",
          "description": "Non-standard codes"
        },
        "phenotype_id": "PH4333",
        "phenotype_version_id": 9551,
        "phenotype_name": "Sarcoidosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1",
            "description": "Yes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11058,
        "concept_version_id": 18543,
        "concept_name": "Doctor diagnosed sarcoidosis",
        "coding_system": {
          "id": 13,
          "name": "Non-standard codes",
          "description": "Non-standard codes"
        },
        "phenotype_id": "PH4333",
        "phenotype_version_id": 9551,
        "phenotype_name": "Sarcoidosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1",
            "description": "sarcoidosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11059,
        "concept_version_id": 18544,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4333",
        "phenotype_version_id": 9551,
        "phenotype_name": "Sarcoidosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1371",
            "description": "sarcoidosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11060,
        "concept_version_id": 18545,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4333",
        "phenotype_version_id": 9551,
        "phenotype_name": "Sarcoidosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D86",
            "description": "Sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G53.2",
            "description": "Multiple cranial nerve palsies in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M63.3",
            "description": "Myositis in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11061,
        "concept_version_id": 18546,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4333",
        "phenotype_version_id": 9551,
        "phenotype_name": "Sarcoidosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D86",
            "description": "Sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G53.2",
            "description": "Multiple cranial nerve palsies in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M63.3",
            "description": "Myositis in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11062,
        "concept_version_id": 18547,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4333",
        "phenotype_version_id": 9551,
        "phenotype_name": "Sarcoidosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D86",
            "description": "Sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G53.2",
            "description": "Multiple cranial nerve palsies in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M63.3",
            "description": "Myositis in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11063,
        "concept_version_id": 18548,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4333",
        "phenotype_version_id": 9551,
        "phenotype_name": "Sarcoidosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D86",
            "description": "Sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G53.2",
            "description": "Multiple cranial nerve palsies in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M63.3",
            "description": "Myositis in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11064,
        "concept_version_id": 18549,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4333",
        "phenotype_version_id": 9551,
        "phenotype_name": "Sarcoidosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "AD5..00",
            "description": "Sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "AD50.00",
            "description": "Sarcoidosis of lung",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "AD51.00",
            "description": "Sarcoidosis of lymph nodes",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "AD52.00",
            "description": "Sarcoidosis of lung with sarcoidosis of lymph nodes",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "AD53.00",
            "description": "Sarcoidosis of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "AD53000",
            "description": "Lupus pernio",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "AD54.00",
            "description": "Sarcoidosis of inferior turbinates",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "AD55.00",
            "description": "Sarcoid arthropathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Cyu0600",
            "description": "[X]Sarcoidosis of other and combined sites",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F013.00",
            "description": "Meningitis due to sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F326300",
            "description": "Multiple cranial nerve palsies in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F374900",
            "description": "Polyneuropathy in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F396500",
            "description": "Myopathy due to sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G558300",
            "description": "Sarcoid heart disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G5y7.00",
            "description": "Sarcoid myocarditis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H57y200",
            "description": "Pulmonary sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J63A.00",
            "description": "Hepatic granulomas in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N233200",
            "description": "Myositis in sarcoidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X20GY",
            "description": "Lupus pernio",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaCL7",
            "description": "Sarcoidosis of inferior turbinates",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/ea1x-3k57",
    "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": 9551,
        "version_name": "Sarcoidosis",
        "version_date": "2026-06-08T20:18:03.992940Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]