[
  {
    "phenotype_id": "PH4259",
    "phenotype_version_id": 9477,
    "name": "Other haemolytic anaemias",
    "definition": "An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto\\-antibodies.\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": "2026-06-08T20:14:09.436672Z",
    "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": "2026-06-08T20:14:09.430440Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Hemolytic anemia (disorder)",
        "value": 636110
      }
    ],
    "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": "ICD10 codes",
        "value": 4
      },
      {
        "name": "Read codes v3",
        "value": 6
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 10594,
        "concept_version_id": 18079,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4259",
        "phenotype_version_id": 9477,
        "phenotype_name": "Other haemolytic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D55",
            "description": "Anaemia due to enzyme disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D58",
            "description": "Other hereditary haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D59",
            "description": "Acquired haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10595,
        "concept_version_id": 18080,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4259",
        "phenotype_version_id": 9477,
        "phenotype_name": "Other haemolytic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D55",
            "description": "Anaemia due to enzyme disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D58",
            "description": "Other hereditary haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D59",
            "description": "Acquired haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10596,
        "concept_version_id": 18081,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4259",
        "phenotype_version_id": 9477,
        "phenotype_name": "Other haemolytic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D55",
            "description": "Anaemia due to enzyme disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D58",
            "description": "Other hereditary haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D59",
            "description": "Acquired haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10597,
        "concept_version_id": 18082,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4259",
        "phenotype_version_id": 9477,
        "phenotype_name": "Other haemolytic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D55",
            "description": "Anaemia due to enzyme disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D58",
            "description": "Other hereditary haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D59",
            "description": "Acquired haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10598,
        "concept_version_id": 18083,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4259",
        "phenotype_version_id": 9477,
        "phenotype_name": "Other haemolytic anaemias",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1453.00",
            "description": "H/O: haemolytic anaemia",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "D1...00",
            "description": "Haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D10..00",
            "description": "Hereditary haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D100.00",
            "description": "Hereditary spherocytosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D100.11",
            "description": "Acholuric familial jaundice",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D100.12",
            "description": "Minkowski - Chauffard syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D101.00",
            "description": "Hereditary elliptocytosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D101.11",
            "description": "Ovalocytosis - hereditary",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D102.00",
            "description": "Haemolytic anaemia due to glutathione metabolism disorder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D102000",
            "description": "Glucose-6-phosphate dehydrogenase deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D102100",
            "description": "Favism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D102200",
            "description": "Drug-induced enzyme deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D103000",
            "description": "Haemolytic anaemia due to hexokinase deficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D103100",
            "description": "Haemolytic anaemia due to pyruvate kinase deficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D103300",
            "description": "Anaemia due to disorders of nucleotide metabolism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D103z00",
            "description": "Enzyme deficiency haemolytic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107.00",
            "description": "Other haemoglobinopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107000",
            "description": "Congenital Heinz-body anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107100",
            "description": "Hereditary persistence of fetal haemoglobin [HPFH]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107111",
            "description": "Hb F disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107200",
            "description": "Haemoglobin Bart's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107300",
            "description": "Haemoglobin-C disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107400",
            "description": "Haemoglobin-D disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107500",
            "description": "Haemoglobin-E disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107600",
            "description": "Haemoglobin Zurich disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107700",
            "description": "Haemoglobin-H disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107y00",
            "description": "Other specified other haemoglobinopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D107z00",
            "description": "Other haemoglobinopathy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D10y.00",
            "description": "Other specified hereditary haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D10y000",
            "description": "Stomatocytosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D10yz00",
            "description": "Other specified hereditary haemolytic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D10z.00",
            "description": "Hereditary haemolytic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D11..00",
            "description": "Acquired haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D110.00",
            "description": "Autoimmune haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D110000",
            "description": "Primary cold-type haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D110100",
            "description": "Primary warm-type haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D110.11",
            "description": "Coombs positive haemolysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D110200",
            "description": "Secondary cold-type haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D110400",
            "description": "Drug-induced autoimmune haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D110z00",
            "description": "Autoimmune haemolytic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D111.00",
            "description": "Non-autoimmune haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D111000",
            "description": "Mechanical haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D111100",
            "description": "Microangiopathic haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D111300",
            "description": "Haemolytic-uraemic syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D111400",
            "description": "Drug-induced haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D111500",
            "description": "Infective haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D111y00",
            "description": "Other specified non-autoimmune haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D111z00",
            "description": "Non-autoimmune haemolytic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112.00",
            "description": "Haemoglobinuria due to haemolysis from external causes",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112000",
            "description": "Haemoglobinuria from exertion",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112011",
            "description": "March haemoglobinuria",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112012",
            "description": "Marchiafava - Micheli syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112100",
            "description": "Paroxysmal nocturnal haemoglobinuria",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112200",
            "description": "Paroxysmal cold haemoglobinuria",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112z00",
            "description": "Haemoglobinuria due to haemolysis from external cause NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112z11",
            "description": "Cold haemoglobinuria",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112z12",
            "description": "Acquired haemolytic anaemia with haemoglobinuria NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D112z13",
            "description": "Paroxysmal haemoglobinuria NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D11z.00",
            "description": "Acquired haemolytic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D11z000",
            "description": "Acquired spherocytosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D11z100",
            "description": "Pyknocytosis, infantile",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D1y..00",
            "description": "Other specified haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D1z..00",
            "description": "Haemolytic anaemias NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Dyu1.00",
            "description": "[X]Haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Dyu1300",
            "description": "[X]Other haemoglobinopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Dyu1500",
            "description": "[X]Other autoimmune haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q430.00",
            "description": "Perinatal jaundice from hereditary haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q430000",
            "description": "Neonatal jaundice + glucose-6-phosphate dehydrogenase defic.",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q430z00",
            "description": "Perinatal jaundice from hereditary haemolytic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaC0z",
            "description": "Drug-induced autoimmune haemolytic anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13p",
            "description": "Haemoglobinuria due to haemolysis from external cause NOS",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/ecp2-yg36",
    "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": 9477,
        "version_name": "Other haemolytic anaemias",
        "version_date": "2026-06-08T20:14:09.447180Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]