[
  {
    "phenotype_id": "PH4319",
    "phenotype_version_id": 9537,
    "name": "Ptosis of eyelid",
    "definition": "An eye disease characterized by the drooping or falling of the upper or lower eyelid.\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": "2026-06-08T20:17:24.530659Z",
    "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": "2026-06-08T20:17:24.522559Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Ptosis of eyelid (disorder)",
        "value": 672924
      }
    ],
    "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": 10972,
        "concept_version_id": 18457,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4319",
        "phenotype_version_id": 9537,
        "phenotype_name": "Ptosis of eyelid",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H02.4",
            "description": "Ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10973,
        "concept_version_id": 18458,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4319",
        "phenotype_version_id": 9537,
        "phenotype_name": "Ptosis of eyelid",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H02.4",
            "description": "Ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10974,
        "concept_version_id": 18459,
        "concept_name": "Operative procedures - main OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4319",
        "phenotype_version_id": 9537,
        "phenotype_name": "Ptosis of eyelid",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C18.1",
            "description": "Correction of ptosis of eyelid using levator muscle technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.2",
            "description": "Correction of ptosis of eyelid using frontalis muscle technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.3",
            "description": "Correction of ptosis of eyelid using sling of fascia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.4",
            "description": "Correction of ptosis of eyelid using superior rectus muscle technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.5",
            "description": "Tarsomullerectomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.6",
            "description": "Correction of ptosis of eyelid using aponeurosis technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.8",
            "description": "Other specified correction of ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.9",
            "description": "Unspecified correction of ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10975,
        "concept_version_id": 18460,
        "concept_name": "Operative procedures - secondary OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4319",
        "phenotype_version_id": 9537,
        "phenotype_name": "Ptosis of eyelid",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C18.1",
            "description": "C18.1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.2",
            "description": "C18.2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.3",
            "description": "C18.3",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.4",
            "description": "C18.4",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.5",
            "description": "C18.5",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.6",
            "description": "C18.6",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.8",
            "description": "C18.8",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C18.9",
            "description": "C18.9",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10976,
        "concept_version_id": 18461,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4319",
        "phenotype_version_id": 9537,
        "phenotype_name": "Ptosis of eyelid",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H02.4",
            "description": "Ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10977,
        "concept_version_id": 18462,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4319",
        "phenotype_version_id": 9537,
        "phenotype_name": "Ptosis of eyelid",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H02.4",
            "description": "Ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10978,
        "concept_version_id": 18463,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4319",
        "phenotype_version_id": 9537,
        "phenotype_name": "Ptosis of eyelid",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "2BE..00",
            "description": "O/E - ptosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "2BE2.00",
            "description": "O/E - ptosis present",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "2BE3.00",
            "description": "O/E - Horner's syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "2BEZ.00",
            "description": "O/E - ptosis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7218.00",
            "description": "Correction of ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7218000.0",
            "description": "Correction of eyelid ptosis using levator muscle technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7218100.0",
            "description": "Correction of eyelid ptosis using frontalis muscle technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7218200.0",
            "description": "Correction of ptosis of eyelid using sling of fascia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7218300.0",
            "description": "Correction of eyelid ptosis using superior rectus technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7218500.0",
            "description": "Correction of eyelid ptosis using aponeurosis technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7218y00",
            "description": "Other specified correction of ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7218z00",
            "description": "Correction of ptosis of eyelid NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F4E3.00",
            "description": "Ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F4E3000",
            "description": "Unspecified ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F4E3100",
            "description": "Paralytic ptosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F4E3200",
            "description": "Myogenic ptosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F4E3300",
            "description": "Mechanical ptosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F4E3z00",
            "description": "Ptosis of eyelid NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P360.00",
            "description": "Congenital ptosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P360.11",
            "description": "Blepharoptosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0B4",
            "description": "Correction of ptosis of eyelid using sling of fascia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1Jz",
            "description": "Congenital ptosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XM050",
            "description": "Ptosis of eyelid",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/gfyq-k456",
    "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": 9537,
        "version_name": "Ptosis of eyelid",
        "version_date": "2026-06-08T20:17:24.541799Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]