[
  {
    "phenotype_id": "PH4230",
    "phenotype_version_id": 9448,
    "name": "Macular degeneration",
    "definition": "A retinal degeneration characterized by gradual deterioration of light\\-sensing cells in the tissues at the back of the eye and has_symptom vision loss.\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": "2026-06-08T20:12:40.157143Z",
    "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": "2026-06-08T20:12:40.151489Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": null,
    "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": "Non-standard codes",
        "value": 13
      },
      {
        "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": 10422,
        "concept_version_id": 17907,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4230",
        "phenotype_version_id": 9448,
        "phenotype_name": "Macular degeneration",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1528",
            "description": "macular degeneration",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10423,
        "concept_version_id": 17908,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4230",
        "phenotype_version_id": 9448,
        "phenotype_name": "Macular degeneration",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H35.3",
            "description": "Degeneration of macula and posterior pole",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10424,
        "concept_version_id": 17909,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4230",
        "phenotype_version_id": 9448,
        "phenotype_name": "Macular degeneration",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H35.3",
            "description": "Degeneration of macula and posterior pole",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10425,
        "concept_version_id": 17910,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4230",
        "phenotype_version_id": 9448,
        "phenotype_name": "Macular degeneration",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H35.3",
            "description": "Degeneration of macula and posterior pole",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10426,
        "concept_version_id": 17911,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4230",
        "phenotype_version_id": 9448,
        "phenotype_name": "Macular degeneration",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "H35.3",
            "description": "Degeneration of macula and posterior pole",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10427,
        "concept_version_id": 17912,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4230",
        "phenotype_version_id": 9448,
        "phenotype_name": "Macular degeneration",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "2BBH.00",
            "description": "Retinal drusen",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F424200",
            "description": "Retinal pigment epithelium serous detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F424300",
            "description": "Retinal pigment epithelium haemorrhagic detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F424400",
            "description": "Retinal pigment epithelial detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F425.00",
            "description": "Degeneration of macula and posterior pole",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F425000",
            "description": "Unspecified senile macular degeneration",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F425100",
            "description": "Dry senile macular degeneration",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F425.11",
            "description": "Senile macular degeneration",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F425200",
            "description": "Wet senile macular degeneration",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F425211",
            "description": "Kuhnt - Junius degeneration",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F425700",
            "description": "Drusen",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F425z00",
            "description": "Degeneration of macula or posterior pole NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X00eG",
            "description": "Retinal pigment epithelial detachment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X75mo",
            "description": "Retinal drusen",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE15x",
            "description": "Degeneration of macula and posterior pole",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10428,
        "concept_version_id": 17913,
        "concept_name": "Which eye(s) affected by macular degeneration",
        "coding_system": {
          "id": 13,
          "name": "Non-standard codes",
          "description": "Non-standard codes"
        },
        "phenotype_id": "PH4230",
        "phenotype_version_id": 9448,
        "phenotype_name": "Macular degeneration",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1",
            "description": "Right",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "2",
            "description": "Left",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "3",
            "description": "Right",
            "attributes": {
              "type": "Both"
            }
          }
        ]
      },
      {
        "concept_id": 10429,
        "concept_version_id": 17914,
        "concept_name": "Eye problems/disorders",
        "coding_system": {
          "id": 13,
          "name": "Non-standard codes",
          "description": "Non-standard codes"
        },
        "phenotype_id": "PH4230",
        "phenotype_version_id": 9448,
        "phenotype_name": "Macular degeneration",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "5",
            "description": "Macular degeneration",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/n014-4a89",
    "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": 9448,
        "version_name": "Macular degeneration",
        "version_date": "2026-06-08T20:12:40.168214Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]