[
  {
    "phenotype_id": "PH4105",
    "phenotype_version_id": 9323,
    "name": "Aplastic anaemias",
    "definition": "Aplastic anaemia is a serious condition affecting the blood, where the bone marrow and stem cells do not produce enough blood cells. It is also called bone marrow failure.\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": "2026-06-08T20:06:01.147484Z",
    "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": "2026-06-08T20:06:01.142039Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Aplastic anemia (disorder)",
        "value": 413860
      }
    ],
    "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": 9641,
        "concept_version_id": 17126,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4105",
        "phenotype_version_id": 9323,
        "phenotype_name": "Aplastic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1332",
            "description": "aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "1447",
            "description": "pancytopenia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9642,
        "concept_version_id": 17127,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4105",
        "phenotype_version_id": 9323,
        "phenotype_name": "Aplastic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D60",
            "description": "Acquired pure red cell aplasia [erythroblastopenia]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D61",
            "description": "Other aplastic anaemias",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9643,
        "concept_version_id": 17128,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4105",
        "phenotype_version_id": 9323,
        "phenotype_name": "Aplastic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D60",
            "description": "Acquired pure red cell aplasia [erythroblastopenia]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D61",
            "description": "Other aplastic anaemias",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9644,
        "concept_version_id": 17129,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4105",
        "phenotype_version_id": 9323,
        "phenotype_name": "Aplastic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D60",
            "description": "Acquired pure red cell aplasia [erythroblastopenia]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D61",
            "description": "Other aplastic anaemias",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9645,
        "concept_version_id": 17130,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4105",
        "phenotype_version_id": 9323,
        "phenotype_name": "Aplastic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D60",
            "description": "Acquired pure red cell aplasia [erythroblastopenia]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D61",
            "description": "Other aplastic anaemias",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9646,
        "concept_version_id": 17131,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4105",
        "phenotype_version_id": 9323,
        "phenotype_name": "Aplastic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D20..00",
            "description": "Aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200.00",
            "description": "Constitutional aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200000",
            "description": "Congenital hypoplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200011",
            "description": "Constitutional aplastic anaemia without malformation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200100",
            "description": "Fanconi's familial refractory anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200111",
            "description": "Fanconi's hypoplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200.13",
            "description": "Blackfan - Diamond syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200.15",
            "description": "Hypoplastic anaemia - familial",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200200",
            "description": "Constitutional aplastic anaemia with malformation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200211",
            "description": "Pancytopenia-dysmelia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200300",
            "description": "Constitutional red cell aplasia and hypoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200311",
            "description": "Blackfan - Diamond syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200312",
            "description": "Congenital pure red cell aplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200313",
            "description": "Constitutional red cell hypoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200314",
            "description": "Congenital red cell hypoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200400",
            "description": "Erythrogenesis imperfecta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D200y00",
            "description": "Other specified constitutional aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201.00",
            "description": "Acquired aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201000",
            "description": "Aplastic anaemia due to chronic disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201100",
            "description": "Aplastic anaemia due to drugs",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201.11",
            "description": "Normocytic anaemia due to aplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201111",
            "description": "Hypoplastic anaemia due to drug or chemical substance",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201200",
            "description": "Aplastic anaemia due to infection",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201211",
            "description": "Hypoplastic anaemia due to infection",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201311",
            "description": "Radiation aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201400",
            "description": "Aplastic anaemia due to toxic cause",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201412",
            "description": "Hypoplastic anaemia due to toxic cause",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201500",
            "description": "Pancytopenia - acquired",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201600",
            "description": "Pancytopenia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201611",
            "description": "Pancytopenia with malformation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201612",
            "description": "Pancytopenia with pancreatitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201700",
            "description": "Transient hypoplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201800",
            "description": "[X]Pure red cell aplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201z00",
            "description": "Acquired aplastic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201z12",
            "description": "Red cell hypoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201z13",
            "description": "Secondary red cell hypoplasia NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D201z14",
            "description": "Secondary red cell aplasia NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D202.00",
            "description": "Chronic acquired pure red cell aplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D203.00",
            "description": "Transient acquired pure red cell aplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D203000",
            "description": "Transient erythroblastopenia of childhood",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D204.00",
            "description": "Idiopathic aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D20X.00",
            "description": "Acquired pure red cell aplasia, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D20z.00",
            "description": "Aplastic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X20CX",
            "description": "Transient erythroblastopenia of childhood",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13q",
            "description": "Constitutional aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13r",
            "description": "Constitutional aplastic anaemia with malformation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13s",
            "description": "Constitutional red cell aplasia and hypoplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13t",
            "description": "Acquired aplastic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13u",
            "description": "Aplastic anaemia due to drugs",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13v",
            "description": "Pancytopenia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13w",
            "description": "Acquired aplastic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/2jkc-1v49",
    "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": 9323,
        "version_name": "Aplastic anaemias",
        "version_date": "2026-06-08T20:06:01.157553Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]