Phenotype Library | phenotype: Thalassaemia

Thalassaemia

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

PH320

Version ID

640

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' 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' diagnosis or history of diagnosis during a consultation

OR Secondary care (ICD10)

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

Implementation

PhenoFlow Implementation:

https://kclhi.org/phenoflow/phenotype/download/934

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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C1603/4345 Thalassaemia - Primary care - Read codes v2

Rows: 16

Code	Description	Disease	Medcode	Category
D104.00	Thalassaemia	Thalassaemia	1171.0	Diagnosis of Thalassaemia
D104.12	Mediterranean anaemia	Thalassaemia	105439.0	Diagnosis of Thalassaemia
D104000	Thalassaemia major NEC	Thalassaemia	31405.0	Diagnosis of Thalassaemia
D104011	Thalassaemia major - Cooley's anaemia	Thalassaemia	45151.0	Diagnosis of Thalassaemia
D104200	Thalassaemia with haemoglobin S disease	Thalassaemia	54429.0	Diagnosis of Thalassaemia
D104211	Sickle-cell thalassaemia	Thalassaemia	31075.0	Diagnosis of Thalassaemia
D104300	Alpha thalassaemia	Thalassaemia	8866.0	Diagnosis of Thalassaemia
D104311	Homozygous alpha thalassaemia	Thalassaemia	37808.0	Diagnosis of Thalassaemia
D104600	Beta intermedia thalassaemia	Thalassaemia	57144.0	Diagnosis of Thalassaemia
D104700	Beta major thalassaemia	Thalassaemia	46733.0	Diagnosis of Thalassaemia
D104811	Beta thalassaemia	Thalassaemia	21643.0	Diagnosis of Thalassaemia
D104900	Delta-beta thalassaemia	Thalassaemia	32943.0	Diagnosis of Thalassaemia
D104A00	Hereditary leptocytosis	Thalassaemia	71992.0	Diagnosis of Thalassaemia
D104z00	Thalassaemia NOS	Thalassaemia	4666.0	Diagnosis of Thalassaemia
D104z11	Mediterranean anaemia	Thalassaemia	66137.0	Diagnosis of Thalassaemia
Dyu1100	[X]Other thalassaemias	Thalassaemia	73946.0	Diagnosis of Thalassaemia

C1604/4347 Thalassaemia - Primary care - Med codes

Rows: 16

Code	Description	Disease	ReadcodeDescr	Readcode
105439.0	Diagnosis of Thalassaemia	Thalassaemia	Mediterranean anaemia	D104.12
1171.0	Diagnosis of Thalassaemia	Thalassaemia	Thalassaemia	D104.00
21643.0	Diagnosis of Thalassaemia	Thalassaemia	Beta thalassaemia	D104811
31075.0	Diagnosis of Thalassaemia	Thalassaemia	Sickle-cell thalassaemia	D104211
31405.0	Diagnosis of Thalassaemia	Thalassaemia	Thalassaemia major NEC	D104000
32943.0	Diagnosis of Thalassaemia	Thalassaemia	Delta-beta thalassaemia	D104900
37808.0	Diagnosis of Thalassaemia	Thalassaemia	Homozygous alpha thalassaemia	D104311
45151.0	Diagnosis of Thalassaemia	Thalassaemia	Thalassaemia major - Cooley's anaemia	D104011
4666.0	Diagnosis of Thalassaemia	Thalassaemia	Thalassaemia NOS	D104z00
46733.0	Diagnosis of Thalassaemia	Thalassaemia	Beta major thalassaemia	D104700
54429.0	Diagnosis of Thalassaemia	Thalassaemia	Thalassaemia with haemoglobin S disease	D104200
57144.0	Diagnosis of Thalassaemia	Thalassaemia	Beta intermedia thalassaemia	D104600
66137.0	Diagnosis of Thalassaemia	Thalassaemia	Mediterranean anaemia	D104z11
71992.0	Diagnosis of Thalassaemia	Thalassaemia	Hereditary leptocytosis	D104A00
73946.0	Diagnosis of Thalassaemia	Thalassaemia	[X]Other thalassaemias	Dyu1100
8866.0	Diagnosis of Thalassaemia	Thalassaemia	Alpha thalassaemia	D104300

C1605/4349 Thalassaemia - Secondary care - Diagnoses - ICD10 codes

Rows: 5

Code	Description	Disease	Category
D56.0	Alpha thalassaemia	Thalassaemia	Diagnosis of Thalassaemia
D56.1	Beta thalassaemia	Thalassaemia	Diagnosis of Thalassaemia
D56.2	Delta-beta thalassaemia	Thalassaemia	Diagnosis of Thalassaemia
D56.8	Other thalassaemias	Thalassaemia	Diagnosis of Thalassaemia
D56.9	Thalassaemia, unspecified	Thalassaemia	Diagnosis of Thalassaemia

API

To Export Phenotype Details:

Format	API
XML	site_root/api/v1/public/phenotypes/PH320/version/640/detail/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH320/version/640/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('PH320', '640', api_client=client)`

To Export Phenotype Code List:

Format	API
XML	site_root/api/v1/public/phenotypes/PH320/version/640/export/codes/?format=xml
JSON	site_root/api/v1/public/phenotypes/PH320/version/640/export/codes/?format=json
CSV	site_root/phenotypes/PH320/version/640/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('PH320', '640', api_client=client)`

Version History

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