[
  {
    "phenotype_id": "PH4116",
    "phenotype_version_id": 9334,
    "name": "Vitamin B12 deficiency anaemia",
    "definition": "A disease characterized by low serum levels of vitamin B12, either inherited or acquired.\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": "2026-06-08T20:06:32.435722Z",
    "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": "2026-06-08T20:06:32.430399Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Megaloblastic anemia due to vitamin B>12< deficiency (disorder)",
        "value": 373913
      }
    ],
    "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": 9707,
        "concept_version_id": 17192,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4116",
        "phenotype_version_id": 9334,
        "phenotype_name": "Vitamin B12 deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1331",
            "description": "pernicious anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9708,
        "concept_version_id": 17193,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4116",
        "phenotype_version_id": 9334,
        "phenotype_name": "Vitamin B12 deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D51",
            "description": "Vitamin B12 deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9709,
        "concept_version_id": 17194,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4116",
        "phenotype_version_id": 9334,
        "phenotype_name": "Vitamin B12 deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D51",
            "description": "Vitamin B12 deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9710,
        "concept_version_id": 17195,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4116",
        "phenotype_version_id": 9334,
        "phenotype_name": "Vitamin B12 deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D51",
            "description": "Vitamin B12 deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9711,
        "concept_version_id": 17196,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4116",
        "phenotype_version_id": 9334,
        "phenotype_name": "Vitamin B12 deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D51",
            "description": "Vitamin B12 deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9712,
        "concept_version_id": 17197,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4116",
        "phenotype_version_id": 9334,
        "phenotype_name": "Vitamin B12 deficiency anaemia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1452",
            "description": "H/O: Anaemia vit.B12 deficient",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "66E..00",
            "description": "B12 deficiency monitoring",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "66E1.00",
            "description": "B12 defic. initial assessment",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "66E2.00",
            "description": "B12 defic.follow-up assessment",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "66E3.00",
            "description": "B12 injections started",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "66E4.00",
            "description": "B12 injections - at home",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "66E5.00",
            "description": "B12 injections - at surgery",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "66E6.00",
            "description": "Reticulcytosis after B12",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "66E7.00",
            "description": "B12 def.-dubious diag.criteria",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "66E8.00",
            "description": "B12 injections stopped",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "66EZ.00",
            "description": "B12 defic. monitoring NOS",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "C262100",
            "description": "Vitamin B12 deficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D010.00",
            "description": "Pernicious anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D010.11",
            "description": "Addison's anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D010.12",
            "description": "Biermer's congenital pernicious anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D010.13",
            "description": "Congenital deficiency of intrinsic factor",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011.00",
            "description": "Other vitamin B12 deficiency anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011000",
            "description": "Vitamin B12 deficiency anaemia due to dietary causes",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011011",
            "description": "Imerslund - Grasbeck syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011013",
            "description": "Vegan's anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011100",
            "description": "Vit B12 defic anaemia due to malabsorption with proteinuria",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011.11",
            "description": "Vitamin B12 deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011200",
            "description": "Transcobalamin II deficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011X00",
            "description": "Vitamin B12 deficiency anaemia, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D011z00",
            "description": "Other vitamin B12 deficiency anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D013000",
            "description": "Combined B12 and folate deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Dyu0100",
            "description": "[X]Other dietary vitamin B12 deficiency anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Dyu0200",
            "description": "[X]Other vitamin B12 deficiency anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Dyu0600",
            "description": "[X]Vitamin B12 deficiency anaemia, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F11x600",
            "description": "Cerebral degeneration due to vitamin B12 deficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F162.00",
            "description": "Subacute combined degeneration of spinal cord",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F381500",
            "description": "Myasthenic syndrome due to pernicious anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X40SU",
            "description": "Transcobalamin II deficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13g",
            "description": "Other vitamin B12 deficiency anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE13h",
            "description": "Vitamin B12 deficiency anaemia due to dietary causes",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE2ro",
            "description": "Pernicious anaemia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/1w4z-bp74",
    "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": 9334,
        "version_name": "Vitamin B12 deficiency anaemia",
        "version_date": "2026-06-08T20:06:32.445689Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]