[
  {
    "phenotype_id": "PH4135",
    "phenotype_version_id": 9353,
    "name": "Cystic Fibrosis",
    "definition": "Cystic fibrosis is an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food.\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": "2026-06-08T20:07:35.303410Z",
    "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": "2026-06-08T20:07:35.298158Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Cystic fibrosis (disorder)",
        "value": 325060
      }
    ],
    "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": "Non-standard codes",
        "value": 13
      },
      {
        "name": "Read codes v3",
        "value": 6
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 9829,
        "concept_version_id": 17314,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4135",
        "phenotype_version_id": 9353,
        "phenotype_name": "Cystic Fibrosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "E84",
            "description": "Cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9830,
        "concept_version_id": 17315,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4135",
        "phenotype_version_id": 9353,
        "phenotype_name": "Cystic Fibrosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "E84",
            "description": "Cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9831,
        "concept_version_id": 17316,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4135",
        "phenotype_version_id": 9353,
        "phenotype_name": "Cystic Fibrosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "E84",
            "description": "Cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9832,
        "concept_version_id": 17317,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4135",
        "phenotype_version_id": 9353,
        "phenotype_name": "Cystic Fibrosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "E84",
            "description": "Cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9833,
        "concept_version_id": 17318,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4135",
        "phenotype_version_id": 9353,
        "phenotype_name": "Cystic Fibrosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "66k..00",
            "description": "Cystic fibrosis monitoring",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "66k0.00",
            "description": "Cystic fibrosis annual review",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "C10N100",
            "description": "Cystic fibrosis related diabetes mellitus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370.00",
            "description": "Cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370000",
            "description": "Cystic fibrosis with no meconium ileus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370100",
            "description": "Cystic fibrosis with meconium ileus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370.11",
            "description": "Fibrocystic disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370111",
            "description": "Meconium ileus in cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370.12",
            "description": "Mucoviscidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370200",
            "description": "Cystic fibrosis with pulmonary manifestations",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370300",
            "description": "Cystic fibrosis with intestinal manifestations",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370400",
            "description": "Arthropathy in cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370500",
            "description": "Cystic fibrosis with distal intestinal obstruction syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370700",
            "description": "Liver disease due to cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370800",
            "description": "Cystic fibrosis related cirrhosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370900",
            "description": "Exacerbation of cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370y00",
            "description": "Cystic fibrosis with other manifestations",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C370z00",
            "description": "Cystic fibrosis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaBDb",
            "description": "Cystic fibrosis with other manifestations",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaMzI",
            "description": "Cystic fibrosis related diabetes mellitus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaQvc",
            "description": "Cystic fibrosis monitoring",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaQvd",
            "description": "Cystic fibrosis annual review",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaREa",
            "description": "Liver disease due to cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaREX",
            "description": "Arthropathy in cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaREZ",
            "description": "Cystic fibrosis with distal intestinal obstruction syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaXi9",
            "description": "Cystic fibrosis related cirrhosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaZr7",
            "description": "Exacerbation of cystic fibrosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9834,
        "concept_version_id": 17319,
        "concept_name": "Doctor diagnosed cystic fibrosis",
        "coding_system": {
          "id": 13,
          "name": "Non-standard codes",
          "description": "Non-standard codes"
        },
        "phenotype_id": "PH4135",
        "phenotype_version_id": 9353,
        "phenotype_name": "Cystic Fibrosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1",
            "description": "True",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9835,
        "concept_version_id": 17320,
        "concept_name": "Recent medication for cystic fibrosis",
        "coding_system": {
          "id": 13,
          "name": "Non-standard codes",
          "description": "Non-standard codes"
        },
        "phenotype_id": "PH4135",
        "phenotype_version_id": 9353,
        "phenotype_name": "Cystic Fibrosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1",
            "description": "True",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/yvj2-qe33",
    "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": 9353,
        "version_name": "Cystic Fibrosis",
        "version_date": "2026-06-08T20:07:35.314447Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]