[
  {
    "phenotype_id": "PH4211",
    "phenotype_version_id": 9429,
    "name": "Iron deficiency anaemia",
    "definition": "Iron deficiency anemia is a common type of anemia — a condition in which blood lacks adequate healthy red blood cells.\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": "2026-06-08T20:11:41.253491Z",
    "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": "2026-06-08T20:11:41.247815Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Iron deficiency anemia (disorder)",
        "value": 486970
      }
    ],
    "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": 10314,
        "concept_version_id": 17799,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4211",
        "phenotype_version_id": 9429,
        "phenotype_name": "Iron deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1330",
            "description": "iron deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10315,
        "concept_version_id": 17800,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4211",
        "phenotype_version_id": 9429,
        "phenotype_name": "Iron deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D50",
            "description": "Iron deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10316,
        "concept_version_id": 17801,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4211",
        "phenotype_version_id": 9429,
        "phenotype_name": "Iron deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D50",
            "description": "Iron deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10317,
        "concept_version_id": 17802,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4211",
        "phenotype_version_id": 9429,
        "phenotype_name": "Iron deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D50",
            "description": "Iron deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10318,
        "concept_version_id": 17803,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4211",
        "phenotype_version_id": 9429,
        "phenotype_name": "Iron deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D50",
            "description": "Iron deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10319,
        "concept_version_id": 17804,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4211",
        "phenotype_version_id": 9429,
        "phenotype_name": "Iron deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D00..00",
            "description": "Iron deficiency anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D000.00",
            "description": "Iron deficiency anaemia due to chronic blood loss",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D000.11",
            "description": "Normocytic anaemia due to chronic blood loss",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D000.12",
            "description": "Iron deficiency anaemia due to blood loss",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D001.00",
            "description": "Iron deficiency anaemia due to dietary causes",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00y.00",
            "description": "Other specified iron deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00y000",
            "description": "Sideropenic dysphagia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00y011",
            "description": "Kelly-Paterson syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00y012",
            "description": "Plummer-Vinson syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00y.11",
            "description": "Kelly - Paterson syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00y.12",
            "description": "Plummer - Vinson syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00yz00",
            "description": "Other specified iron deficiency anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00z.00",
            "description": "Unspecified iron deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00z000",
            "description": "Achlorhydric anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00z100",
            "description": "Chlorotic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D00zz00",
            "description": "Iron deficiency anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D0...11",
            "description": "Asiderotic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D0...12",
            "description": "Sideropenic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Dyu0000",
            "description": "[X]Other iron deficiency anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13b",
            "description": "Deficiency anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13d",
            "description": "Iron deficiency anaemia due to chronic blood loss",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13e",
            "description": "Other specified iron deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/e755-rd83",
    "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": 9429,
        "version_name": "Iron deficiency anaemia",
        "version_date": "2026-06-08T20:11:41.263275Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]