Autism Spectrum Disorder (ASD)
Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., Hall, J.
PH933 / 3523 Clinical-Coded Phenotype
Overview
Phenotype TypeDisease or syndromePhenotype UUIDexcel-ADP-idV1I18SexBothValid Event Date RangeNo dataCoding SystemSNOMED CT codesICD10 codesRead codes v2CollectionsAdolescent Data Platform (ADP)DATAMINDPhenotype LibraryTagsNo dataDefinition
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.
Implementation
Implementation
Clinical Code List
PUBLISHED - 8 Codes
PUBLISHED - 8 Codes
PUBLISHED - 67 Codes
Publication
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. https://doi.org/10.1177/13623613211059674
(DOI:10.1177/13623613211059674)
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.
Citation Example
Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., Hall, J.. PH933 / 3523 - Autism Spectrum Disorder (ASD). Phenotype Library [Online]. 22 July 2024. Available from: http://phenotypes.healthdatagateway.org/phenotypes/PH933/version/3523/detail/. [Accessed 08 September 2024]
API
To Export Phenotype Details:
Format API JSON site_root/api/v1/phenotypes/PH933/version/3523/detail/?format=json R Package library(ConceptLibraryClient)
# Connect to API
client = ConceptLibraryClient::Connection$new(public=TRUE)
# Get details of phenotype
phenotype_details = client$phenotypes$get_detail(
'PH933',
version_id=3523
)Py Package from pyconceptlibraryclient import Client
# Connect to API
client = Client(public=True)
# Get codelist of phenotype
phenotype_codelist = client.phenotypes.get_detail(
'PH933',
version_id=3523
)To Export Phenotype Code List:
Format API JSON site_root/api/v1/phenotypes/PH933/version/3523/export/codes/?format=json CSV site_root/phenotypes/PH933/version/3523/export/codes/ R Package library(ConceptLibraryClient)
# Connect to API
client = ConceptLibraryClient::Connection$new(public=TRUE)
# Get codelist of phenotype
phenotype_codelist = client$phenotypes$get_codelist(
'PH933',
version_id=3523
)Py Package 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
)Version History