Phenotype Library | phenotype: Thalassaemia trait

Thalassaemia trait

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

PH319

Version ID

638

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 'Thalassaemia trait' 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

'Thalassaemia trait' diagnosis or history of diagnosis during a consultation

OR Secondary care (ICD10)

ALL diagnoses of 'Thalassaemia trait' or history of diagnosis during a hospitalization

Implementation

PhenoFlow Implementation:

https://kclhi.org/phenoflow/phenotype/download/931

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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C1600/4339 Thalassaemia trait - Primary care - Read codes v2

Rows: 4

Code	Description	Disease	Medcode	Category
D104100	Thalassaemia minor NEC	Thalassaemia trait	1174.0	Diagnosis of Thalassaemia trait
D104400	Alpha trait thalassaemia	Thalassaemia trait	12235.0	Diagnosis of Thalassaemia trait
D104500	Beta trait thalassaemia	Thalassaemia trait	9864.0	Diagnosis of Thalassaemia trait
D104800	Beta minor thalassaemia	Thalassaemia trait	27761.0	Diagnosis of Thalassaemia trait

C1601/4341 Thalassaemia trait - Primary care - Med codes

Rows: 4

Code	Description	Disease	ReadcodeDescr	Readcode
1174.0	Diagnosis of Thalassaemia trait	Thalassaemia trait	Thalassaemia minor NEC	D104100
12235.0	Diagnosis of Thalassaemia trait	Thalassaemia trait	Alpha trait thalassaemia	D104400
27761.0	Diagnosis of Thalassaemia trait	Thalassaemia trait	Beta minor thalassaemia	D104800
9864.0	Diagnosis of Thalassaemia trait	Thalassaemia trait	Beta trait thalassaemia	D104500

C1602/4343 Thalassaemia trait - Secondary care - Diagnoses - ICD10 codes

Rows: 1

Code	Description	Disease	Category
D56.3	Thalassaemia trait	Thalassaemia trait	Diagnosis of Thalassaemia trait

API

To Export Phenotype Details:

Format	API
XML	site_root/api/v1/public/phenotypes/PH319/version/638/detail/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH319/version/638/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('PH319', '638', api_client=client)`

To Export Phenotype Code List:

Format	API
XML	site_root/api/v1/public/phenotypes/PH319/version/638/export/codes/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH319/version/638/export/codes/?format=json
CSV	site_root/phenotypes/PH319/version/638/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('PH319', '638', api_client=client)`

Version History

Version ID	Name	Owner	Publish date
638	Thalassaemia trait	ieuan.scanlon	2021-10-06	currently shown