Autism Spectrum Disorder (ASD) Primary care

Underwood JFG, Del Pozo Baños M, Frizzati A, John A, Hall J

PH933 / 1945 Clinical-Coded Phenotype

  1. Overview

    Phenotype Type
    Disease or syndrome
    Phenotype UUID
    excel-ADP-idV1I18
    Sex
    Both
    Valid Event Date Range
    No data
    Coding System
    Read codes v2
    Data Sources
    GP dataset - Welsh Primary Care
    Collections
    Adolescent Data Platform (ADP)DATAMINDPhenotype Library
    Tags
    No data

  2. Definition

    Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders that are characterised by difficulties in communication, social interaction, as well as restricted interests and resistance to change (Underwood et al, 2019). These codes have been taken from previously validated code lists (Underwood et al, 2021). Pathological demand avoidance (Eu846) and Rett Syndrome (Eu842) have been excluded from this list based on clinical (Prof Ann John) and expert (Underwood) advice and due to the fact they are not included in the DSM or ICD-10.

  3. Implementation

    Implementation

    No data

  4. Clinical Code List

  5. Publication

    • Underwood JFG, Del Pozo Baos M, Frizzati A, John A, Hall J (2021). Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK - an e-cohort study. Rates of Major Psychiatric Disorders in ASD DOI:10.1177/13623613211059674

      (DOI:10.1177/13623613211059674)

    • John, A., Friedmann, Y., Delpozo-Banos, M., Frizzati, A., Ford, T., & Thapar, A. 2022. “Association of School Absence and Exclusion with Recorded Neurodevelopmental Disorders, Mental Disorders, or Self-Harm: A Nationwide, Retrospective, Electronic Cohort Study of Children and Young People in Wales, UK.

    • Underwood, J., Kendall, K., Berrett, J., Lewis, C., Anney, R., Van den Bree, M., & Hall, J. (2019). Autism spectrum disorder diagnosis in adults: Phenotype and genotype findings from a clinically derived cohort. British Journal of Psychiatry, 215(5), 647-653. doi:10.1192/bjp.2019.30

      (DOI:10.1192/bjp.2019.30)

    • Main reference link: https://journals.sagepub.com/doi/full/10.1177/13623613211059674

      (DOI:10.1177/13623613211059674)

    Citation Example

    Underwood JFG, Del Pozo Baños M, Frizzati A, John A, Hall J . PH933 / 1945 - Autism Spectrum Disorder (ASD) Primary care. Phenotype Library [Online]. 05 May 2022. Available from: http://phenotypes.healthdatagateway.org/phenotypes/PH933/version/1945/detail/. [Accessed 26 April 2024]

  6. API

    To Export Phenotype Details:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH933/version/1945/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=1945
    )

    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(
     'PH933',
     version_id=1945
    )

    To Export Phenotype Code List:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH933/version/1945/export/codes/?format=json
    CSV site_root/phenotypes/PH933/version/1945/export/codes/
    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=1945
    )

    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=1945
    )

  7. Version History

    Version IDNameOwnerPublish date
    2449 Autism Spectrum Disorder (ASD) ieuan.scanlon2023-09-20
    1945 Autism Spectrum Disorder (ASD) Primary care ieuan.scanlon2022-05-05currently shown