[
  {
    "phenotype_id": "PH4101",
    "phenotype_version_id": 9319,
    "name": "Anorectal fistula",
    "definition": "An abnormal anatomical passage connecting the RECTUM to the outside, with an orifice at the site of drainage.\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": "2026-06-08T20:05:48.342752Z",
    "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": "2026-06-08T20:05:48.336883Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Anorectal fistula (disorder)",
        "value": 648801
      }
    ],
    "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": "Read codes v3",
        "value": 6
      },
      {
        "name": "OPCS4 codes",
        "value": 7
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 9611,
        "concept_version_id": 17096,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4101",
        "phenotype_version_id": 9319,
        "phenotype_name": "Anorectal fistula",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K60.3",
            "description": "Anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K60.4",
            "description": "Rectal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K60.5",
            "description": "Anorectal fistula",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9612,
        "concept_version_id": 17097,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4101",
        "phenotype_version_id": 9319,
        "phenotype_name": "Anorectal fistula",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K60.3",
            "description": "Anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K60.4",
            "description": "Rectal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K60.5",
            "description": "Anorectal fistula",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9613,
        "concept_version_id": 17098,
        "concept_name": "Operative procedures - main OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4101",
        "phenotype_version_id": 9319,
        "phenotype_name": "Anorectal fistula",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H55.1",
            "description": "Laying open of low anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.2",
            "description": "Laying open of high anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.3",
            "description": "Laying open of anal fistula NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.4",
            "description": "Insertion of seton into high anal fistula and partial laying open of track HFQ",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.5",
            "description": "Fistulography of anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.6",
            "description": "Probing of perineal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.7",
            "description": "Repair of anal fistula using plug",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9614,
        "concept_version_id": 17099,
        "concept_name": "Operative procedures - secondary OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4101",
        "phenotype_version_id": 9319,
        "phenotype_name": "Anorectal fistula",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H55.1",
            "description": "H55.1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.2",
            "description": "H55.2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.3",
            "description": "H55.3",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.4",
            "description": "H55.4",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.5",
            "description": "H55.5",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.6",
            "description": "H55.6",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H55.7",
            "description": "H55.7",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9615,
        "concept_version_id": 17100,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4101",
        "phenotype_version_id": 9319,
        "phenotype_name": "Anorectal fistula",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K60.3",
            "description": "Anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K60.4",
            "description": "Rectal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K60.5",
            "description": "Anorectal fistula",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9616,
        "concept_version_id": 17101,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4101",
        "phenotype_version_id": 9319,
        "phenotype_name": "Anorectal fistula",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K60.3",
            "description": "Anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K60.4",
            "description": "Rectal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K60.5",
            "description": "Anorectal fistula",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9617,
        "concept_version_id": 17102,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4101",
        "phenotype_version_id": 9319,
        "phenotype_name": "Anorectal fistula",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "7729700.0",
            "description": "Closure of rectal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738000.0",
            "description": "Laying open of low anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738100.0",
            "description": "Laying open of high anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738.11",
            "description": "Anal fistula operations",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738200.0",
            "description": "Laying open of anal fistula NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738300.0",
            "description": "Insertion seton in high anal fistula+part lay open track HFQ",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738400.0",
            "description": "Fistulography of anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738600.0",
            "description": "Excision of fistula in ano",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738611.0",
            "description": "Excision of anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7738900.0",
            "description": "Repair of anal fistula using plug",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J53..00",
            "description": "Anal fissure and fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J531.00",
            "description": "Fistula-in-ano",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J531000",
            "description": "Sub-mucosal anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J531100",
            "description": "Inter-muscular anal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J531200",
            "description": "Ano-rectal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J531300",
            "description": "Rectal fistula",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J531z00",
            "description": "Fistula-in-ano NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J53z.00",
            "description": "Anal fissure and fistula NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaPpU",
            "description": "Repair of anal fistula using plug",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/h5kk-n698",
    "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": 9319,
        "version_name": "Anorectal fistula",
        "version_date": "2026-06-08T20:05:48.353440Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]