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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

Type
Disease or Syndrome
ID
PH156
Version ID
312
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
Tags /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

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

OR Secondary care (ICD10)

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

Implementation


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

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
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
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

Export - export all codes into a csv file/JSON/XML for the current phenotype version.

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