Phenotype Library | phenotype: Down's syndrome

Down's syndrome

Kuan V, Denaxas S, Gonzalez-Izquierdo A, Direk K, Bhatti O, Husain S, Sutaria S, Hingorani M, Nitsch D, Parisinos C, Lumbers T, Mathur R, Sofat R, Casas JP, Wong I, Hemingway H, Hingorani A

PH156

Version ID

312

Type

Disease or Syndrome

Data Sources

CPRD GOLD , HES Admitted Patient Care data for CPRD GOLD

Valid event data range

01/01/1999 - 01/07/2016

Sex

♀ Female ♂ Male

Agreement Date

2019-05-20

Coding system

Read codes v2 ICD10 codes Med codes

Collections

CALIBER Phenotype Library

Definition

At the specified date, a patient is defined as having had Down's syndrome IF they meet the criteria for any of the following on or before the specified date. The earliest date on which the individual meets any of the following criteria on or before the specified date is defined as the first event date:

Primary care

Down's syndrome diagnosis or history of diagnosis during a consultation

OR Secondary care (ICD10)

ALL diagnoses of Down's syndrome or history of diagnosis during a hospitalization

Implementation

PhenoFlow Implementation:

https://kclhi.org/phenoflow/phenotype/download/451

Publications

Kuan V., Denaxas S., Gonzalez-Izquierdo A. et al. A chronological map of 308 physical and mental health conditions from 4 million individuals in the National Health Service. The Lancet Digital Health - DOI 10.1016/S2589-7500(19)30012-3

Clinical Code List

CSV

JSON

XML

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C1131/3401 Down's syndrome - Primary care - Read codes v2

Rows: 10

Code	Description	Disease	Medcode	Category
PJ0..00	Down's syndrome - trisomy 21	Down's syndrome	1543.0	Diagnosis of Down's syndrome
PJ0..11	Mongolism	Down's syndrome	23489.0	Diagnosis of Down's syndrome
PJ0..12	Trisomy 21	Down's syndrome	18415.0	Diagnosis of Down's syndrome
PJ00.00	Trisomy 21, meiotic nondisjunction	Down's syndrome	42701.0	Diagnosis of Down's syndrome
PJ01.00	Trisomy 21, mosaicism	Down's syndrome	32010.0	Diagnosis of Down's syndrome
PJ01.11	Trisomy 21, mitotic nondisjunction	Down's syndrome	107919.0	Diagnosis of Down's syndrome
PJ02.00	Trisomy 21, translocation	Down's syndrome	61499.0	Diagnosis of Down's syndrome
PJ02.11	Partial trisomy 21 in Down's syndrome	Down's syndrome	101309.0	Diagnosis of Down's syndrome
PJ0z.00	Down's syndrome NOS	Down's syndrome	10759.0	Diagnosis of Down's syndrome
PJ0z.11	Trisomy 21 NOS	Down's syndrome	61627.0	Diagnosis of Down's syndrome

C1132/3403 Down's syndrome - Primary care - Med codes

Rows: 10

Code	Description	Disease	ReadcodeDescr	Readcode
101309.0	Diagnosis of Down's syndrome	Down's syndrome	Partial trisomy 21 in Down's syndrome	PJ02.11
10759.0	Diagnosis of Down's syndrome	Down's syndrome	Down's syndrome NOS	PJ0z.00
107919.0	Diagnosis of Down's syndrome	Down's syndrome	Trisomy 21, mitotic nondisjunction	PJ01.11
1543.0	Diagnosis of Down's syndrome	Down's syndrome	Down's syndrome - trisomy 21	PJ0..00
18415.0	Diagnosis of Down's syndrome	Down's syndrome	Trisomy 21	PJ0..12
23489.0	Diagnosis of Down's syndrome	Down's syndrome	Mongolism	PJ0..11
32010.0	Diagnosis of Down's syndrome	Down's syndrome	Trisomy 21, mosaicism	PJ01.00
42701.0	Diagnosis of Down's syndrome	Down's syndrome	Trisomy 21, meiotic nondisjunction	PJ00.00
61499.0	Diagnosis of Down's syndrome	Down's syndrome	Trisomy 21, translocation	PJ02.00
61627.0	Diagnosis of Down's syndrome	Down's syndrome	Trisomy 21 NOS	PJ0z.11

C1133/3405 Down's syndrome - Secondary care - Diagnoses - ICD10 codes

Rows: 1

Code	Description	Disease	Category
Q90	Down's syndrome	Down's syndrome	Diagnosis of Down's syndrome

API

To Export Phenotype Details:

Format	API
XML	site_root/api/v1/public/phenotypes/PH156/version/312/detail/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH156/version/312/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('PH156', '312', api_client=client)`

To Export Phenotype Code List:

Format	API
XML	site_root/api/v1/public/phenotypes/PH156/version/312/export/codes/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH156/version/312/export/codes/?format=json
CSV	site_root/phenotypes/PH156/version/312/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('PH156', '312', api_client=client)`

Version History

Version ID	Name	Owner	Publish date
312	Down's syndrome	ieuan.scanlon	2021-10-06	currently shown