Cystic Fibrosis carriers & related conditions

PH1676 / 3478

Miller, Aaron C., et al.

Jul 17, 2024

Clinical-Coded Phenotype

  1. Overview

    Phenotype Type
    Disease or syndrome
    Sex
    Both
    Valid Event Date Range
    No data
    Coding System
    ICD10 codesRead codes v2
    Data Sources
    No data
    Collections
    Phenotype LibrarySAIL
    Tags
    COVID-19
    Ontology
    No data

  2. Definition

    Cystic Fibrosis carriers & related conditions

    Please note that this code list originates from the "Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions" publication and was sourced from the author's Github.

    This code list has been uploaded to this site for use in a related study. Please find information relating to this code list and its associated publication below.

    Significance

    Cystic fibrosis (CF) carriers are at increased risk for most of the conditions that commonly occur in people with CF.

    Given that there are more than 10 million CF carriers in the United States alone, the morbidity attributable to the CF carrier state is likely substantial. Thus, identifying CF carriers may aid in the prevention, diagnosis, and treatment of several common and uncommon disorders.

  3. Implementation

    Implementation

    No data

  4. Clinical Codelist

  5. Publication

    Related publications

    Citation Requirements

    Miller AC, Comellas AP, Hornick DB, Stoltz DA, Cavanaugh JE, Gerke AK, Welsh MJ, Zabner J, Polgreen PM. Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions. Proceedings of the National Academy of Sciences. 2020 Jan 21;117(3):1621-7.

  6. API

    To Export Phenotype Details:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH1676/version/3478/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(
     'PH1676',
     version_id=3478
    )

    Py Package

    # Download here

    from pyconceptlibraryclient import Client


    # Connect to API

    client = Client(public=True)


    # Get details of Phenotype

    phenotype_detail = client.phenotypes.get_detail(
     'PH1676',
     version_id=3478
    )

    To Export Phenotype Code List:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH1676/version/3478/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(
     'PH1676',
     version_id=3478
    )

    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(
     'PH1676',
     version_id=3478
    )

  7. Version History

    Version IDNameOwnerPublish date
    Cystic Fibrosis carriers & related conditions ieuan.scanlon2024-07-17 16:14