Autism Spectrum Disorder (ASD)

PH933 / 2449

Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., Hall, J.

Sep 20, 2023

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
    Adolescent Data Platform (ADP)DATAMINDPhenotype Library
    Tags
    No data
    Ontology
    No data

  2. Definition

    Autism spectrum disorder (ASD) refers any one of a group of disorders with an onset typically occurring during the preschool years and characterized by difficulties with social communication and social interaction and restricted and repetitive patterns in behaviours, interests, and activities. The term “spectrum” is used because of the heterogeneity in the presentation and severity of ASD symptoms, as well as in the skills and level of functioning of individuals who have ASD.

    Autism Spectrum Disorder (ASD) can be identified with Read Codes (primary care) and/or ICD-10 codes. Codes to identify Autism Spectrum Disorder (ASD) come from Underwood et al. (2022) and are selecting for the maximum sensitivity and specificity of autistic phenotypes.

  3. Implementation

    Implementation

    No data

  4. Clinical Codelist

  5. Publication

    Related publications

    Citation Example

    Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., Hall, J.. PH933 / 2449 - Autism Spectrum Disorder (ASD). Phenotype Library [Online]. 20 September 2023. Available from: http://phenotypes.healthdatagateway.org/phenotypes/PH933/version/2449/detail/. [Accessed 05 February 2026]

  6. API

    To Export Phenotype Details:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH933/version/2449/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(
     'PH933',
     version_id=2449
    )

    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(
     'PH933',
     version_id=2449
    )

    To Export Phenotype Code List:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH933/version/2449/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(
     'PH933',
     version_id=2449
    )

    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(
     'PH933',
     version_id=2449
    )

  7. Version History

    Version IDNameOwnerPublish date
    3523 Autism Spectrum Disorder (ASD) ieuan.scanlon2024-07-22 13:46
    Autism Spectrum Disorder (ASD) ieuan.scanlon2023-09-20 14:55
    1945 Autism Spectrum Disorder (ASD) Primary care ieuan.scanlon2022-05-05 08:26