[
  {
    "phenotype_id": "PH4353",
    "phenotype_version_id": 9571,
    "name": "Sickle-cell anaemia",
    "definition": "Sickle cell anemia is an inherited red blood cell disorder in which there aren't enough healthy red blood cells to carry oxygen throughout the body.\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": "2026-06-08T20:19:20.925082Z",
    "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": "2026-06-08T20:19:20.915783Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Sickle cell-hemoglobin SS disease (disorder)",
        "value": 362331
      }
    ],
    "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": 11174,
        "concept_version_id": 18659,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4353",
        "phenotype_version_id": 9571,
        "phenotype_name": "Sickle-cell anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1339",
            "description": "sickle cell disease",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11175,
        "concept_version_id": 18660,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4353",
        "phenotype_version_id": 9571,
        "phenotype_name": "Sickle-cell anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D57.0",
            "description": "Sickle-cell anaemia with crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.1",
            "description": "Sickle-cell anaemia without crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.2",
            "description": "Double heterozygous sickling disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.8",
            "description": "Other sickle-cell disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11176,
        "concept_version_id": 18661,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4353",
        "phenotype_version_id": 9571,
        "phenotype_name": "Sickle-cell anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D57.0",
            "description": "Sickle-cell anaemia with crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.1",
            "description": "Sickle-cell anaemia without crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.2",
            "description": "Double heterozygous sickling disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.8",
            "description": "Other sickle-cell disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11177,
        "concept_version_id": 18662,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4353",
        "phenotype_version_id": 9571,
        "phenotype_name": "Sickle-cell anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D57.0",
            "description": "Sickle-cell anaemia with crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.1",
            "description": "Sickle-cell anaemia without crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.2",
            "description": "Double heterozygous sickling disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.8",
            "description": "Other sickle-cell disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11178,
        "concept_version_id": 18663,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4353",
        "phenotype_version_id": 9571,
        "phenotype_name": "Sickle-cell anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D57.0",
            "description": "Sickle-cell anaemia with crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.1",
            "description": "Sickle-cell anaemia without crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.2",
            "description": "Double heterozygous sickling disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D57.8",
            "description": "Other sickle-cell disorders",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11179,
        "concept_version_id": 18664,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4353",
        "phenotype_version_id": 9571,
        "phenotype_name": "Sickle-cell anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1458.00",
            "description": "History of sickle cell anaemia",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "D104211",
            "description": "Sickle-cell thalassaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D106.00",
            "description": "Sickle-cell anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D106000",
            "description": "Sickle-cell anaemia of unspecified type",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D106100",
            "description": "Sickle-cell anaemia with no crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D106200",
            "description": "Sickle-cell anaemia with crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D106300",
            "description": "Sickle-cell anaemia with haemoglobin C disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D106400",
            "description": "Sickle-cell anaemia with haemoglobin D disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D106500",
            "description": "Sickle-cell anaemia with haemoglobin E disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D106z00",
            "description": "Sickle-cell anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Dyu1200",
            "description": "[X]Other sickle-cell disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F422100",
            "description": "Proliferative retinopathy due to sickle cell disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K0G..00",
            "description": "Sickle cell nephropathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X30Kx",
            "description": "Sickle cell nephropathy",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/zgpc-qj82",
    "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": 9571,
        "version_name": "Sickle-cell anaemia",
        "version_date": "2026-06-08T20:19:20.938453Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]