Phenotype Library | phenotype: Autism Spectrum Disorder (ASD) Primary care

Autism Spectrum Disorder (ASD) Primary care

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

PH933

Version ID

1945

Type

Disease or syndrome

Data Sources

GP dataset - Welsh Primary Care

Sex

♀ Female ♂ Male

Agreement Date

2022-04-01

Coding system

Read codes v2

Collections

Adolescent Data Platform (ADP) DATAMIND Phenotype Library

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.

Publications

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

Clinical Code List

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JSON

XML

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C2709/6834 Autism Spectrum Disorder (ASD) - Primary care - Read codes v2

Rows: 8

Code	Description
1J9..	suspected autism
E140.	infantile autism
E1400	infantile autism - active \| active infantile autism
E1401	infantile autism - residual \| residual infantile autism
E140z	infantile autism nos
Eu840	[x]childhood autism
Eu841	[x]atypical autism
Eu845	[x]asperger's syndrome

API

To Export Phenotype Details:

Format	API
XML	site_root/api/v1/public/phenotypes/PH933/version/1945/detail/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH933/version/1945/detail/?format=json
R Package	`# Download here library(ConceptLibraryClient) # Connect to API client = connect_to_API(public=TRUE) # Get details of phenotype details = get_phenotype_detail_by_version('PH933', '1945', api_client=client)`

To Export Phenotype Code List:

Format	API
XML	site_root/api/v1/public/phenotypes/PH933/version/1945/export/codes/?format=xml
JSON	site_root/api/v1/public/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 = connect_to_API(public=TRUE) # Get codelists of phenotype codelists = get_phenotype_code_list('PH933', '1945', api_client=client)`

Version History

Version ID	Name	Owner	Publish date
1945	Autism Spectrum Disorder (ASD) Primary care	ieuan.scanlon	2022-05-05	currently shown