[
  {
    "phenotype_id": "PH4208",
    "phenotype_version_id": 9426,
    "name": "Hypothyroidism",
    "definition": "UKB 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": "2026-06-08T20:11:32.686716Z",
    "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": "2026-06-08T20:11:32.681068Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Hypothyroidism (disorder)",
        "value": 236602
      }
    ],
    "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": 10296,
        "concept_version_id": 17781,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4208",
        "phenotype_version_id": 9426,
        "phenotype_name": "Hypothyroidism",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1226",
            "description": "hypothyroidism/myxoedema",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10297,
        "concept_version_id": 17782,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4208",
        "phenotype_version_id": 9426,
        "phenotype_name": "Hypothyroidism",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "E03.5",
            "description": "Myxoedema coma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "E03.8",
            "description": "Other specified hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "E03.9",
            "description": "Hypothyroidism, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10298,
        "concept_version_id": 17783,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4208",
        "phenotype_version_id": 9426,
        "phenotype_name": "Hypothyroidism",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "E03.5",
            "description": "Myxoedema coma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "E03.8",
            "description": "Other specified hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "E03.9",
            "description": "Hypothyroidism, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10299,
        "concept_version_id": 17784,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4208",
        "phenotype_version_id": 9426,
        "phenotype_name": "Hypothyroidism",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "E03.5",
            "description": "Myxoedema coma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "E03.8",
            "description": "Other specified hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "E03.9",
            "description": "Hypothyroidism, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10300,
        "concept_version_id": 17785,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4208",
        "phenotype_version_id": 9426,
        "phenotype_name": "Hypothyroidism",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "E03.5",
            "description": "Myxoedema coma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "E03.8",
            "description": "Other specified hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "E03.9",
            "description": "Hypothyroidism, unspecified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10301,
        "concept_version_id": 17786,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4208",
        "phenotype_version_id": 9426,
        "phenotype_name": "Hypothyroidism",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1432.00",
            "description": "H/O: hypothyroidism",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "66BB.00",
            "description": "Hypothyroidism annual review",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "8CR5.00",
            "description": "Hypothyroidism clinical management plan",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "9Oj..00",
            "description": "Hypothyroidism monitoring administration",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Oj0.00",
            "description": "Hypothyroidism monitoring first letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Oj1.00",
            "description": "Hypothyroidism monitoring second letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Oj2.00",
            "description": "Hypothyroidism monitoring third letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Oj3.00",
            "description": "Hypothyroidism monitoring verbal invite",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Oj4.00",
            "description": "Hypothyroidism monitoring telephone invitation",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "C04..00",
            "description": "Acquired hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C040.00",
            "description": "Postsurgical hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C040.11",
            "description": "Post ablative hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C041.00",
            "description": "Other postablative hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C041000",
            "description": "Irradiation hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04..11",
            "description": "Myxoedema",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04..12",
            "description": "Thyroid deficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04..13",
            "description": "Hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C041z00",
            "description": "Postablative hypothyroidism NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C043.00",
            "description": "Other iatrogenic hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C043z00",
            "description": "Iatrogenic hypothyroidism NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04y.00",
            "description": "Other acquired hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04z.00",
            "description": "Hypothyroidism NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04z000",
            "description": "Premature puberty due to hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04z100",
            "description": "Myxoedema coma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04z.11",
            "description": "Pretibial myxoedema - hypothyroid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04z.12",
            "description": "Thyroid insufficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C04z.13",
            "description": "Hypothyroid goitre, acquired",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C06y100",
            "description": "Thyroid atrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C134300",
            "description": "TSH - thyroid-stimulating hormone deficiency",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Cyu1100",
            "description": "[X]Other sp cified hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F11x500",
            "description": "Cerebral degeneration due to myxoedema",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F381400",
            "description": "Myasthenic syndrome due to hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F395300",
            "description": "Myopathy due to myxoedema",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X005I",
            "description": "Myxoedema coma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaJuE",
            "description": "Hypothyroidism monitoring administration",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaJuM",
            "description": "Hypothyroidism monitoring first letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaJuN",
            "description": "Hypothyroidism monitoring second letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaJuO",
            "description": "Hypothyroidism monitoring third letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaJYj",
            "description": "Hypothyroidism clinical management plan",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaKbz",
            "description": "Hypothyroidism monitoring verbal invite",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaMFm",
            "description": "Hypothyroidism monitoring telephone invitation",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaOjl",
            "description": "Hypothyroidism annual review",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XE108",
            "description": "Acquired hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE10A",
            "description": "Hypothyroidism NOS",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/8qfc-rp11",
    "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": 9426,
        "version_name": "Hypothyroidism",
        "version_date": "2026-06-08T20:11:32.696145Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]