Autism Spectrum Disorder (ASD)

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

PH933 / 3523 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
    SNOMED CT codesICD10 codesRead codes v2
    Data Sources
    Patient Episode Dataset for Wales (PEDW)
    Welsh Longitudinal General Practice Dataset (WLGP)
    Collections
    Adolescent Data Platform (ADP)DATAMINDPhenotype Library
    Tags
    No data
    Ontology
    No data

  2. Definition

    Autism spectrum disorder (ASD) refers to 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.

    ICD-10 and Read code definitionsdefinition

    These definitions include codes such as childhood disintegrative disorder, pervasive development disorder, and Rett’s and Asperger’s syndromes. Suspected autism was also included, as it was found to be strongly correlated with confirmed autism. This definition has been previously validated and published (Underwood et al, 2022).

    SNOMED CT definition

    This definition has been created from mapped Read codes and ICD-10 definitions, as well as an additional exploration of SNOMED CT codes. It excludes non-specific codes of neurodevelopmental disorder.

    Warning: The SNOMED CT definition have not undergone validation yet.

    References

    Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., & Hall, J. (2022). Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK: An e-cohort study. Autism, 26(6), 1499–1508.

  3. Implementation

    Implementation

    No data

  4. Clinical Code List

  5. Publication

    Related publications

    Citation Requirements

    Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., & Hall, J. (2022). Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK: An e-cohort study. Autism, 26(6), 1499–1508.

  6. Permissions

  7. API

    To Export Phenotype Details:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH933/version/3523/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=3523
    )

    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=3523
    )

    To Export Phenotype Code List:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH933/version/3523/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=3523
    )

    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=3523
    )

  8. Version History

    Version IDNameOwnerPublish date
    Autism Spectrum Disorder (ASD) ieuan.scanlon2024-07-22 13:46
    2449 Autism Spectrum Disorder (ASD) ieuan.scanlon2023-09-20 14:55
    1945 Autism Spectrum Disorder (ASD) Primary care ieuan.scanlon2022-05-05 08:26