[
  {
    "phenotype_id": "PH4277",
    "phenotype_version_id": 9495,
    "name": "Pilonidal cyst/sinus",
    "definition": "A hair\\-containing cyst or sinus, occurring chiefly in the coccygeal region.\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": "2026-06-08T20:15:16.916908Z",
    "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": "2026-06-08T20:15:16.911228Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Pilonidal disease (disorder)",
        "value": 314667
      }
    ],
    "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": 10697,
        "concept_version_id": 18182,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4277",
        "phenotype_version_id": 9495,
        "phenotype_name": "Pilonidal cyst/sinus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L05",
            "description": "Pilonidal cyst",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10698,
        "concept_version_id": 18183,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4277",
        "phenotype_version_id": 9495,
        "phenotype_name": "Pilonidal cyst/sinus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L05",
            "description": "Pilonidal cyst",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10699,
        "concept_version_id": 18184,
        "concept_name": "Operative procedures - main OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4277",
        "phenotype_version_id": 9495,
        "phenotype_name": "Pilonidal cyst/sinus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H59.1",
            "description": "Excision of pilonidal sinus and Z plasty skin flap HFQ",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.2",
            "description": "Excision of pilonidal sinus and skin flap NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.3",
            "description": "Excision of pilonidal sinus and skin graft HFQ",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.4",
            "description": "Excision of pilonidal sinus and suture HFQ",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.8",
            "description": "Other specified excision of pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.9",
            "description": "Unspecified excision of pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.1",
            "description": "Destruction of pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.2",
            "description": "Laying open of pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.3",
            "description": "Drainage of pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.4",
            "description": "Injection of radiocontrast substance into pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.8",
            "description": "Other specified other operations on pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.9",
            "description": "Unspecified other operations on pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10700,
        "concept_version_id": 18185,
        "concept_name": "Operative procedures - secondary OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4277",
        "phenotype_version_id": 9495,
        "phenotype_name": "Pilonidal cyst/sinus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H59.1",
            "description": "H59.1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.2",
            "description": "H59.2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.3",
            "description": "H59.3",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.4",
            "description": "H59.4",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.8",
            "description": "H59.8",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H59.9",
            "description": "H59.9",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.1",
            "description": "H60.1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.2",
            "description": "H60.2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.3",
            "description": "H60.3",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.4",
            "description": "H60.4",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.8",
            "description": "H60.8",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H60.9",
            "description": "H60.9",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10701,
        "concept_version_id": 18186,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4277",
        "phenotype_version_id": 9495,
        "phenotype_name": "Pilonidal cyst/sinus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L05",
            "description": "Pilonidal cyst",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10702,
        "concept_version_id": 18187,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4277",
        "phenotype_version_id": 9495,
        "phenotype_name": "Pilonidal cyst/sinus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L05",
            "description": "Pilonidal cyst",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10703,
        "concept_version_id": 18188,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4277",
        "phenotype_version_id": 9495,
        "phenotype_name": "Pilonidal cyst/sinus",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "773B.00",
            "description": "Pilonidal sinus operations",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B000",
            "description": "Excision of pilonidal sinus and Z plasty skin flap HFQ",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B100",
            "description": "Excision of pilonidal sinus and skin flap NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B200",
            "description": "Excision of pilonidal sinus and skin graft HFQ",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B300",
            "description": "Excision of pilonidal sinus and suture HFQ",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B400",
            "description": "Excision of pilonidal sinus NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B500",
            "description": "Laying open of track of pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B700",
            "description": "Drainage of pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B800",
            "description": "Injection of radiocontrast substance into pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773B900",
            "description": "Destruction of pilonidal sinus NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773BA00",
            "description": "Other specified excision of pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773Bx00",
            "description": "Excision of pilonidal sinus NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773By00",
            "description": "Other specified operation on pilonidal sinus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "773Bz00",
            "description": "Operation on pilonidal sinus NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M06..00",
            "description": "Pilonidal sinus/cyst",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M060.00",
            "description": "Pilonidal cyst with abscess",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M061.00",
            "description": "Pilonidal cyst with no abscess",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M062.00",
            "description": "Pilonidal sinus with abscess",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M063.00",
            "description": "Pilonidal sinus without abscess",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M06z.00",
            "description": "Pilonidal sinus/cyst NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1Ae",
            "description": "Pilonidal cyst with no abscess",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/qr78-0a20",
    "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": 9495,
        "version_name": "Pilonidal cyst/sinus",
        "version_date": "2026-06-08T20:15:16.926524Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]