Phenotype Library | phenotype: Autism Spectrum Disorder (ASD)

Autism Spectrum Disorder (ASD)

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

PH933

Version ID

2449

Type

Disease or Syndrome

Data Sources

Sex

♀ Female ♂ Male

Agreement Date

09/01/2023

Coding system

Read codes v2 ICD10 codes

Collections

Adolescent Data Platform (ADP) DATAMIND Phenotype Library

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.

Publications

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

Clinical Code List

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C2709/9884 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

C2930/9883 Autism Spectrum Disorder (ASD)- ICD-10 - ICD10 codes

Rows: 8

Code	Description
F84.1	Atypical autism
F84.2	Retts syndrome
F84.3	Other childhood disintegrative disorder
F84.4	Overactive disorder associated with mental retardation and stereotyped movements
F84.5	Aspergers syndrome
F84.8	Other pervasive developmental disorders
F84.9	Pervasive developmental disorders, unspecified
F84.0	Childhood autism

API

To Export Phenotype Details:

Format	API
XML	site_root/api/v1/public/phenotypes/PH933/version/2449/detail/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH933/version/2449/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', '2449', api_client=client)`

To Export Phenotype Code List:

Format	API
XML	site_root/api/v1/public/phenotypes/PH933/version/2449/export/codes/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH933/version/2449/export/codes/?format=json
CSV	site_root/phenotypes/PH933/version/2449/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', '2449', api_client=client)`

Version History

Version ID	Name	Owner	Publish date
2449	Autism Spectrum Disorder (ASD)	ieuan.scanlon	2023-09-20	currently shown
1945	Autism Spectrum Disorder (ASD) Primary care	ieuan.scanlon	2022-05-05