[
  {
    "phenotype_id": "PH4166",
    "phenotype_version_id": 9384,
    "name": "Down's syndrome",
    "definition": "A chromosomal disease that is characterized by flat\\-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.\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": "2026-06-08T20:09:17.227165Z",
    "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": "2026-06-08T20:09:17.221454Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Complete trisomy 21 syndrome (disorder)",
        "value": 50203
      }
    ],
    "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": 10038,
        "concept_version_id": 17523,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4166",
        "phenotype_version_id": 9384,
        "phenotype_name": "Down's syndrome",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "Q90",
            "description": "Down's syndrome",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10039,
        "concept_version_id": 17524,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4166",
        "phenotype_version_id": 9384,
        "phenotype_name": "Down's syndrome",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "Q90",
            "description": "Down's syndrome",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10040,
        "concept_version_id": 17525,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4166",
        "phenotype_version_id": 9384,
        "phenotype_name": "Down's syndrome",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "Q90",
            "description": "Down's syndrome",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10041,
        "concept_version_id": 17526,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4166",
        "phenotype_version_id": 9384,
        "phenotype_name": "Down's syndrome",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "Q90",
            "description": "Down's syndrome",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10042,
        "concept_version_id": 17527,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4166",
        "phenotype_version_id": 9384,
        "phenotype_name": "Down's syndrome",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "PJ0..00",
            "description": "Down's syndrome - trisomy 21",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ00.00",
            "description": "Trisomy 21, meiotic nondisjunction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ01.00",
            "description": "Trisomy 21, mosaicism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ0..11",
            "description": "Mongolism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ01.11",
            "description": "Trisomy 21, mitotic nondisjunction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ0..12",
            "description": "Trisomy 21",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ02.00",
            "description": "Trisomy 21, translocation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ02.11",
            "description": "Partial trisomy 21 in Down's syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ0z.00",
            "description": "Down's syndrome NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "PJ0z.11",
            "description": "Trisomy 21 NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X78Ek",
            "description": "Down's syndrome NOS",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/b8cz-sp67",
    "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": 9384,
        "version_name": "Down's syndrome",
        "version_date": "2026-06-08T20:09:17.238863Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]