[
  {
    "phenotype_id": "PH4327",
    "phenotype_version_id": 9545,
    "name": "Retinal detachments and breaks",
    "definition": "Retinal detachment is a disorder of the eye in which the retina separates from the layer underneath.\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": "2026-06-08T20:17:46.295395Z",
    "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": "2026-06-08T20:17:46.285209Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Retinal detachment (disorder)",
        "value": 635840
      }
    ],
    "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": "UKBioBank codes",
        "value": 12
      },
      {
        "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": 11019,
        "concept_version_id": 18504,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4327",
        "phenotype_version_id": 9545,
        "phenotype_name": "Retinal detachments and breaks",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1281",
            "description": "retinal detachment",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11020,
        "concept_version_id": 18505,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4327",
        "phenotype_version_id": 9545,
        "phenotype_name": "Retinal detachments and breaks",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H33.0",
            "description": "Retinal detachment with retinal break",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.3",
            "description": "Retinal breaks without detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.4",
            "description": "Traction detachment of retina",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.5",
            "description": "Other retinal detachments",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11021,
        "concept_version_id": 18506,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4327",
        "phenotype_version_id": 9545,
        "phenotype_name": "Retinal detachments and breaks",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H33.0",
            "description": "Retinal detachment with retinal break",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.3",
            "description": "Retinal breaks without detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.4",
            "description": "Traction detachment of retina",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.5",
            "description": "Other retinal detachments",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11022,
        "concept_version_id": 18507,
        "concept_name": "Operative procedures - main OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4327",
        "phenotype_version_id": 9545,
        "phenotype_name": "Retinal detachments and breaks",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C81",
            "description": "Photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C81.1",
            "description": "Xenon photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C81.2",
            "description": "Laser photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C81.8",
            "description": "Other specified photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C81.9",
            "description": "Unspecified photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11023,
        "concept_version_id": 18508,
        "concept_name": "Operative procedures - secondary OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4327",
        "phenotype_version_id": 9545,
        "phenotype_name": "Retinal detachments and breaks",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C81",
            "description": "C81",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C81.1",
            "description": "C81.1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C81.2",
            "description": "C81.2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C81.8",
            "description": "C81.8",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C81.9",
            "description": "C81.9",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11024,
        "concept_version_id": 18509,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4327",
        "phenotype_version_id": 9545,
        "phenotype_name": "Retinal detachments and breaks",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H33.0",
            "description": "Retinal detachment with retinal break",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.3",
            "description": "Retinal breaks without detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.4",
            "description": "Traction detachment of retina",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.5",
            "description": "Other retinal detachments",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11025,
        "concept_version_id": 18510,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4327",
        "phenotype_version_id": 9545,
        "phenotype_name": "Retinal detachments and breaks",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H33.0",
            "description": "Retinal detachment with retinal break",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.3",
            "description": "Retinal breaks without detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.4",
            "description": "Traction detachment of retina",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H33.5",
            "description": "Other retinal detachments",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11026,
        "concept_version_id": 18511,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4327",
        "phenotype_version_id": 9545,
        "phenotype_name": "Retinal detachments and breaks",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1481.00",
            "description": "H/O: retinal detachment",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "7271.00",
            "description": "Photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7271000.0",
            "description": "Xenon photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7271100.0",
            "description": "Laser photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7271y00",
            "description": "Other specified photocoagulation of retina for detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7271z00",
            "description": "Photocoagulation of retina for detachment NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F41..00",
            "description": "Retinal detachments and defects",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410.00",
            "description": "Retinal detachment with retinal defect",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410000",
            "description": "Unspecified retinal detachment with retinal defect",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410100",
            "description": "New partial retinal detachment with single defect",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410200",
            "description": "New partial retinal detachment with multiple defects",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410300",
            "description": "New partial retinal detachment with giant tear defect",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410400",
            "description": "New partial retinal detachment with retinal dialysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410500",
            "description": "Recent total retinal detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410600",
            "description": "Recent subtotal retinal detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410700",
            "description": "Old partial retinal detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410800",
            "description": "Old total retinal detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410900",
            "description": "Old subtotal retinal detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F410z00",
            "description": "Retinal detachment with defect NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F41..11",
            "description": "Retinal tears",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F413.00",
            "description": "Retinal defects without detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F413100",
            "description": "Retinal round hole without detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F413200",
            "description": "Horseshoe retinal tear without detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F413300",
            "description": "Multiple retinal defects without detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F413400",
            "description": "Retinal break",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F413z00",
            "description": "Retinal defects without detachment NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F41y.00",
            "description": "Other forms of retinal detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F41y000",
            "description": "Traction retinal detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F41yz00",
            "description": "Other retinal detachments NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F41z.00",
            "description": "Retinal detachment NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "FyuF400",
            "description": "[X]Other retinal detachments",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X00cx",
            "description": "Retinal break",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE15s",
            "description": "Retinal detachments and defects",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/cd3c-gg62",
    "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": 9545,
        "version_name": "Retinal detachments and breaks",
        "version_date": "2026-06-08T20:17:46.305702Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]