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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

Type
Disease or Syndrome
ID
PH320
Version ID
640
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 '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

  1. 'Thalassaemia' diagnosis or history of diagnosis during a consultation

OR Secondary care (ICD10)

  1. ALL diagnoses of 'Thalassaemia' 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: 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
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
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

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

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