[
  {
    "phenotype_id": "PH320",
    "phenotype_version_id": 640,
    "name": "Thalassaemia",
    "definition": "At the specified date, a patient is defined as having had 'Thalassaemia' IF they meet the criteria for any of the following on or before the specified date. The earliest date on which the individual meets any of the following criteria on or before the specified date is defined as the first event date:\n\n\nPrimary care\n\n\n1. 'Thalassaemia' diagnosis or history of diagnosis during a consultation \n\nOR\nSecondary care (ICD10)\n\n\n1. ALL diagnoses of 'Thalassaemia' or history of diagnosis during a hospitalization\n\n\n\n\n\n\n\n\n\n\n\n\n",
    "implementation": "",
    "publications": [
      {
        "doi": "10.1016/S2589-7500(19)30012-3",
        "details": "Kuan V., Denaxas S., Gonzalez-Izquierdo A. et al. A chronological map of 308 physical and mental health conditions from 4 million individuals in the National Health Service. The Lancet Digital Health - DOI 10.1016/S2589-7500(19)30012-3"
      }
    ],
    "validation": "",
    "citation_requirements": "",
    "created": "2021-10-06T16:12:42.180343Z",
    "author": "Kuan V, Denaxas S, Gonzalez-Izquierdo A, Direk K, Bhatti O, Husain S, Sutaria S, Hingorani M, Nitsch D, Parisinos C, Lumbers T, Mathur R, Sofat R, Casas JP, Wong I, Hemingway H, Hingorani A",
    "collections": [
      {
        "name": "CALIBER",
        "value": 21
      },
      {
        "name": "Phenotype Library",
        "value": 18
      }
    ],
    "tags": null,
    "organisation": null,
    "world_access": 1,
    "updated": "2021-10-06T16:12:42.180370Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "ontology": null,
    "phenoflowid": "https://kclhi.org/phenoflow/workflows/github.com/phenoflow/Thalassaemia---58250060-17c9-11ef-9de4-4d4ea830ad16/blob/read-potential-cases-fhir/Thalassaemia.cwl",
    "data_sources": [
      {
        "name": "CPRD GOLD",
        "value": 5,
        "uid": "a29feafa-7bdd-44e9-b977-c9d26425e67f",
        "url": "https://healthdatagateway.org/en/dataset/694",
        "datasource_id": 694
      },
      {
        "name": "HES Admitted Patient Care data for CPRD GOLD",
        "value": 9,
        "uid": "4bcf64a6-f404-4ef4-ae6e-172512ab5f43",
        "url": "https://healthdatagateway.org/en/dataset/674",
        "datasource_id": 674
      }
    ],
    "coding_system": [
      {
        "name": "ICD10 codes",
        "value": 4
      },
      {
        "name": "Read codes v2",
        "value": 5
      },
      {
        "name": "Med codes",
        "value": 8
      }
    ],
    "event_date_range": "01/01/1999 - 01/07/2016",
    "concept_information": [
      {
        "concept_id": 1603,
        "concept_version_id": 4345,
        "concept_name": "Thalassaemia - Primary care",
        "coding_system": {
          "id": 5,
          "name": "Read codes v2",
          "description": "Read codes v2"
        },
        "phenotype_id": "PH320",
        "phenotype_version_id": 640,
        "phenotype_name": "Thalassaemia",
        "code_attribute_header": [
          "Disease",
          "Medcode",
          "Category"
        ],
        "codes": [
          {
            "code": "D104.00",
            "description": "Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "1171.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104000",
            "description": "Thalassaemia major NEC",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "31405.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104011",
            "description": "Thalassaemia major - Cooley's anaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "45151.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104.12",
            "description": "Mediterranean anaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "105439.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104200",
            "description": "Thalassaemia with haemoglobin S disease",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "54429.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104211",
            "description": "Sickle-cell thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "31075.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104300",
            "description": "Alpha thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "8866.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104311",
            "description": "Homozygous alpha thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "37808.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104600",
            "description": "Beta intermedia thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "57144.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104700",
            "description": "Beta major thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "46733.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104811",
            "description": "Beta thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "21643.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104900",
            "description": "Delta-beta thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "32943.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104A00",
            "description": "Hereditary leptocytosis",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "71992.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104z00",
            "description": "Thalassaemia NOS",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "4666.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D104z11",
            "description": "Mediterranean anaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "66137.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "Dyu1100",
            "description": "[X]Other thalassaemias",
            "attributes": {
              "Disease": "Thalassaemia",
              "Medcode": "73946.0",
              "Category": "Diagnosis of Thalassaemia"
            }
          }
        ]
      },
      {
        "concept_id": 1604,
        "concept_version_id": 4347,
        "concept_name": "Thalassaemia - Primary care",
        "coding_system": {
          "id": 8,
          "name": "Med codes",
          "description": "Med codes"
        },
        "phenotype_id": "PH320",
        "phenotype_version_id": 640,
        "phenotype_name": "Thalassaemia",
        "code_attribute_header": [
          "Disease",
          "ReadcodeDescr",
          "Readcode"
        ],
        "codes": [
          {
            "code": "105439.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Mediterranean anaemia",
              "Readcode": "D104.12"
            }
          },
          {
            "code": "1171.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Thalassaemia",
              "Readcode": "D104.00"
            }
          },
          {
            "code": "21643.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Beta thalassaemia",
              "Readcode": "D104811"
            }
          },
          {
            "code": "31075.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Sickle-cell thalassaemia",
              "Readcode": "D104211"
            }
          },
          {
            "code": "31405.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Thalassaemia major NEC",
              "Readcode": "D104000"
            }
          },
          {
            "code": "32943.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Delta-beta thalassaemia",
              "Readcode": "D104900"
            }
          },
          {
            "code": "37808.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Homozygous alpha thalassaemia",
              "Readcode": "D104311"
            }
          },
          {
            "code": "45151.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Thalassaemia major - Cooley's anaemia",
              "Readcode": "D104011"
            }
          },
          {
            "code": "4666.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Thalassaemia NOS",
              "Readcode": "D104z00"
            }
          },
          {
            "code": "46733.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Beta major thalassaemia",
              "Readcode": "D104700"
            }
          },
          {
            "code": "54429.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Thalassaemia with haemoglobin S disease",
              "Readcode": "D104200"
            }
          },
          {
            "code": "57144.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Beta intermedia thalassaemia",
              "Readcode": "D104600"
            }
          },
          {
            "code": "66137.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Mediterranean anaemia",
              "Readcode": "D104z11"
            }
          },
          {
            "code": "71992.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Hereditary leptocytosis",
              "Readcode": "D104A00"
            }
          },
          {
            "code": "73946.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "[X]Other thalassaemias",
              "Readcode": "Dyu1100"
            }
          },
          {
            "code": "8866.0",
            "description": "Diagnosis of Thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "ReadcodeDescr": "Alpha thalassaemia",
              "Readcode": "D104300"
            }
          }
        ]
      },
      {
        "concept_id": 1605,
        "concept_version_id": 4349,
        "concept_name": "Thalassaemia - Secondary care - Diagnoses",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH320",
        "phenotype_version_id": 640,
        "phenotype_name": "Thalassaemia",
        "code_attribute_header": [
          "Disease",
          "Category"
        ],
        "codes": [
          {
            "code": "D56.0",
            "description": "Alpha thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D56.1",
            "description": "Beta thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D56.2",
            "description": "Delta-beta thalassaemia",
            "attributes": {
              "Disease": "Thalassaemia",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D56.8",
            "description": "Other thalassaemias",
            "attributes": {
              "Disease": "Thalassaemia",
              "Category": "Diagnosis of Thalassaemia"
            }
          },
          {
            "code": "D56.9",
            "description": "Thalassaemia, unspecified",
            "attributes": {
              "Disease": "Thalassaemia",
              "Category": "Diagnosis of Thalassaemia"
            }
          }
        ]
      }
    ],
    "status": 2,
    "doi": "https://doi.org/10.48533/zdtb-q471",
    "is_deleted": null,
    "publish_status": 2,
    "owner": "ieuan.scanlon",
    "template": {
      "id": 1,
      "name": "Clinical-Coded Phenotype",
      "description": "Phenotype definitions that are based on lists of clinical codes, or algorithms using clinical codes.",
      "version_id": 1
    },
    "versions": [
      {
        "version_id": 640,
        "version_name": "Thalassaemia",
        "version_date": "2021-10-06T16:12:42.209593Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]