[
  {
    "phenotype_id": "PH4328",
    "phenotype_version_id": 9546,
    "name": "Retinal vascular occlusions",
    "definition": "Blockage of the RETINAL VEIN.\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": "2026-06-08T20:17:49.179942Z",
    "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": "2026-06-08T20:17:49.174506Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Retinal vascular occlusion (disorder)",
        "value": 785522
      }
    ],
    "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
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 11027,
        "concept_version_id": 18512,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4328",
        "phenotype_version_id": 9546,
        "phenotype_name": "Retinal vascular occlusions",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1282",
            "description": "retinal artery/vein occlusion",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11028,
        "concept_version_id": 18513,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4328",
        "phenotype_version_id": 9546,
        "phenotype_name": "Retinal vascular occlusions",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H34",
            "description": "Retinal vascular occlusions",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11029,
        "concept_version_id": 18514,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4328",
        "phenotype_version_id": 9546,
        "phenotype_name": "Retinal vascular occlusions",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H34",
            "description": "Retinal vascular occlusions",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11030,
        "concept_version_id": 18515,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4328",
        "phenotype_version_id": 9546,
        "phenotype_name": "Retinal vascular occlusions",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H34",
            "description": "Retinal vascular occlusions",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11031,
        "concept_version_id": 18516,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4328",
        "phenotype_version_id": 9546,
        "phenotype_name": "Retinal vascular occlusions",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H34",
            "description": "Retinal vascular occlusions",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11032,
        "concept_version_id": 18517,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4328",
        "phenotype_version_id": 9546,
        "phenotype_name": "Retinal vascular occlusions",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "F423.00",
            "description": "Retinal vascular occlusion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423000",
            "description": "Unspecified retinal vascular occlusion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423100",
            "description": "Central retinal artery occlusion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423200",
            "description": "Retinal arterial branch occlusion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423211",
            "description": "Branch retinal artery occlusion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423300",
            "description": "Retinal microembolism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423400",
            "description": "Hollenhorst plaque",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423500",
            "description": "Retinal partial arterial occlusion NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423700",
            "description": "Retinal transient arterial occlusion NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423800",
            "description": "Central retinal vein occlusion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423811",
            "description": "Retinal vein thrombosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423900",
            "description": "Retinal venous branch occlusion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423911",
            "description": "Branch retinal vein occlusion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423A00",
            "description": "Retinal venous engorgement",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F423z00",
            "description": "Retinal vascular occlusion NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F42y700",
            "description": "Retinal cotton wool spots",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "FyuF500",
            "description": "[X]Other retinal artery occlusions",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "FyuF600",
            "description": "[X]Other retinal vascular occlusions",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE15w",
            "description": "Central retinal vein occlusion",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/mzyw-ah98",
    "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": 9546,
        "version_name": "Retinal vascular occlusions",
        "version_date": "2026-06-08T20:17:49.189545Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]