Down's syndrome

Kuan V, Denaxas S, Gonzalez-Izquierdo A, Direk K, Bhatti O, Husain S, Sutaria S, Hingorani M, Nitsch D, Parisinos C, Lumbers T, Mathur R, Sofat R, Casas JP, Wong I, Hemingway H, Hingorani A

PH156 / 312 Clinical-Coded Phenotype

  1. Overview

    Phenotype Type
    Disease or syndrome
    Sex
    Both
    Valid Event Date Range
    01/01/1999 - 01/07/2016
    Coding System
    ICD10 codesRead codes v2Med codes
    Data Sources
    CPRD GOLD
    HES Admitted Patient Care data for CPRD GOLD
    Collections
    CALIBERPhenotype Library
    Tags
    No data
    Ontology
    No data

  2. Definition

    At the specified date, a patient is defined as having had Down's syndrome IF they meet the criteria for any of the following on or before the specified date. The earliest date on which the individual meets any of the following criteria on or before the specified date is defined as the first event date:

    Primary care

    1. Down's syndrome diagnosis or history of diagnosis during a consultation

    OR Secondary care (ICD10)

    1. ALL diagnoses of Down's syndrome or history of diagnosis during a hospitalization

  3. Implementation

    Phenoflow ID

    Please see the PhenoFLOW website here for more information on workflow-based Phenotypes.

    PhenoFLOW Reference: 451

    Implementation

    No data

  4. Clinical Code List

  5. Publication

    Related publications

    • Kuan V., Denaxas S., Gonzalez-Izquierdo A. et al. A chronological map of 308 physical and mental health conditions from 4 million individuals in the National Health Service. The Lancet Digital Health - DOI 10.1016/S2589-7500(19)30012-3

      (DOI: 10.1016/S2589-7500(19)30012-3)

    Citation Example

    Kuan V, Denaxas S, Gonzalez-Izquierdo A, Direk K, Bhatti O, Husain S, Sutaria S, Hingorani M, Nitsch D, Parisinos C, Lumbers T, Mathur R, Sofat R, Casas JP, Wong I, Hemingway H, Hingorani A. PH156 / 312 - Down's syndrome. Phenotype Library [Online]. 06 October 2021. Available from: http://phenotypes.healthdatagateway.org/phenotypes/PH156/version/312/detail/. [Accessed 25 April 2025]

  6. API

    To Export Phenotype Details:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH156/version/312/detail/?format=json
    R Package

    # Download here

    library(ConceptLibraryClient)


    # Connect to API

    client = ConceptLibraryClient::Connection$new(public=TRUE)


    # Get details of phenotype

    phenotype_details = client$phenotypes$get_detail(
     'PH156',
     version_id=312
    )

    Py Package

    # Download here

    from pyconceptlibraryclient import Client


    # Connect to API

    client = Client(public=True)


    # Get codelist of phenotype

    phenotype_codelist = client.phenotypes.get_detail(
     'PH156',
     version_id=312
    )

    To Export Phenotype Code List:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH156/version/312/export/codes/?format=json
    R Package

    # Download here

    library(ConceptLibraryClient)


    # Connect to API

    client = ConceptLibraryClient::Connection$new(public=TRUE)


    # Get codelist of phenotype

    phenotype_codelist = client$phenotypes$get_codelist(
     'PH156',
     version_id=312
    )

    Py Package

    # Download here

    from pyconceptlibraryclient import Client


    # Connect to API

    client = Client(public=True)


    # Get codelist of phenotype

    phenotype_codelist = client.phenotypes.get_codelist(
     'PH156',
     version_id=312
    )

  7. Version History

    Version IDNameOwnerPublish date
    Down's syndrome ieuan.scanlon2021-10-06 16:05