[
  {
    "phenotype_id": "PH4256",
    "phenotype_version_id": 9474,
    "name": "Osteoporosis",
    "definition": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence.\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": "2026-06-08T20:14:00.187844Z",
    "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": "2026-06-08T20:14:00.178645Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Osteoporosis (disorder)",
        "value": 212182
      }
    ],
    "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": 10579,
        "concept_version_id": 18064,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4256",
        "phenotype_version_id": 9474,
        "phenotype_name": "Osteoporosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1309",
            "description": "osteoporosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10580,
        "concept_version_id": 18065,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4256",
        "phenotype_version_id": 9474,
        "phenotype_name": "Osteoporosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M80",
            "description": "Osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M81",
            "description": "Osteoporosis without pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M82",
            "description": "Osteoporosis in diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10581,
        "concept_version_id": 18066,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4256",
        "phenotype_version_id": 9474,
        "phenotype_name": "Osteoporosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M80",
            "description": "Osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M81",
            "description": "Osteoporosis without pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M82",
            "description": "Osteoporosis in diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10582,
        "concept_version_id": 18067,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4256",
        "phenotype_version_id": 9474,
        "phenotype_name": "Osteoporosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M80",
            "description": "Osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M81",
            "description": "Osteoporosis without pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M82",
            "description": "Osteoporosis in diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10583,
        "concept_version_id": 18068,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4256",
        "phenotype_version_id": 9474,
        "phenotype_name": "Osteoporosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M80",
            "description": "Osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M81",
            "description": "Osteoporosis without pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M82",
            "description": "Osteoporosis in diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10584,
        "concept_version_id": 18069,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4256",
        "phenotype_version_id": 9474,
        "phenotype_name": "Osteoporosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "14GB.00",
            "description": "History of osteoporosis",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "58EG.00",
            "description": "Hip DXA scan result osteoporotic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "58EM.00",
            "description": "Lumbar DXA scan result osteoporotic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "58EV.00",
            "description": "Femoral neck DEXA scan result osteoporotic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "66a..00",
            "description": "Osteoporosis monitoring",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9kj..00",
            "description": "Osteoporosis - enhanced services administration",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "9kj0.00",
            "description": "Bone sparing drug treatment offered for osteoporosis - ESA",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "9Od..00",
            "description": "Osteoporosis monitoring administration",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od0.00",
            "description": "Attends osteoporosis monitoring",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od2.00",
            "description": "Osteoporosis monitoring default",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od3.00",
            "description": "Osteoporosis monitoring first letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od4.00",
            "description": "Osteoporosis monitoring second letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od5.00",
            "description": "Osteoporosis monitoring third letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od6.00",
            "description": "Osteoporosis monitoring verbal invitation",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od7.00",
            "description": "Osteoporosis monitoring telephone invitation",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od8.00",
            "description": "Osteoporosis monitoring deleted",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9Od9.00",
            "description": "Osteoporosis monitoring check done",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "N330.00",
            "description": "Osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330000",
            "description": "Osteoporosis, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330100",
            "description": "Senile osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330200",
            "description": "Postmenopausal osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330300",
            "description": "Idiopathic osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330400",
            "description": "Dissuse osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330500",
            "description": "Drug-induced osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330600",
            "description": "Postoophorectomy osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330700",
            "description": "Postsurgical malabsorption osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330A00",
            "description": "Osteoporosis in endocrine disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330B00",
            "description": "Vertebral osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330C00",
            "description": "Osteoporosis localized to spine",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330D00",
            "description": "Osteoporosis due to corticosteroids",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N330z00",
            "description": "Osteoporosis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331200",
            "description": "Postoophorectomy osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331300",
            "description": "Osteoporosis of disuse with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331400",
            "description": "Postsurgical malabsorption osteoporosis with path fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331500",
            "description": "Drug-induced osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331600",
            "description": "Idiopathic osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331800",
            "description": "Osteoporosis + pathological fracture lumbar vertebrae",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331900",
            "description": "Osteoporosis + pathological fracture thoracic vertebrae",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331A00",
            "description": "Osteoporosis + pathological fracture cervical vertebrae",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331B00",
            "description": "Postmenopausal osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331H00",
            "description": "Collapse of cervical vertebra due to osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331J00",
            "description": "Collapse of lumbar vertebra due to osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331K00",
            "description": "Collapse of thoracic vertebra due to osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331L00",
            "description": "Collapse of vertebra due to osteoporosis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331M00",
            "description": "Fragility fracture due to unspecified osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331M11",
            "description": "Minimal trauma fracture due to unspecified osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331N00",
            "description": "Fragility fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N331N11",
            "description": "Minimal trauma fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N374600",
            "description": "Osteoporotic kyphosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "NyuB000",
            "description": "[X]Other osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "NyuB100",
            "description": "[X]Other osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "NyuB200",
            "description": "[X]Osteoporosis in other disorders classified elsewhere",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "NyuB800",
            "description": "[X]Unspecified osteoporosis with pathological fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaD2s",
            "description": "Collapse of cervical vertebra due to osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaD4I",
            "description": "Collapse of lumbar vertebra due to osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaD4J",
            "description": "Collapse of thoracic vertebra due to osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaD4K",
            "description": "Collapse of vertebra due to osteoporosis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaIIp",
            "description": "Fragility fracture due to unspecified osteoporosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaIP4",
            "description": "Osteoporosis due to corticosteroids",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaISd",
            "description": "Osteoporosis monitoring",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISP",
            "description": "Osteoporosis monitoring administration",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISQ",
            "description": "Attends osteoporosis monitoring",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISS",
            "description": "Osteoporosis monitoring default",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaIST",
            "description": "Osteoporosis monitoring first letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISU",
            "description": "Osteoporosis monitoring second letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISV",
            "description": "Osteoporosis monitoring third letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISW",
            "description": "Osteoporosis monitoring verbal invitation",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISX",
            "description": "Osteoporosis monitoring telephone invitation",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISY",
            "description": "Osteoporosis monitoring deleted",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaISZ",
            "description": "Osteoporosis monitoring check done",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaITb",
            "description": "Lumbar DXA scan result osteoporotic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaITW",
            "description": "Hip DXA scan result osteoporotic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaNSP",
            "description": "Fragility fracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaPE2",
            "description": "Femoral neck DEXA scan result osteoporotic",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaQgT",
            "description": "History of osteoporosis",
            "attributes": {
              "type": "prevalent"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/4f3k-0j83",
    "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": 9474,
        "version_name": "Osteoporosis",
        "version_date": "2026-06-08T20:14:00.199200Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]