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Thrombophilia

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
PH321
Version ID
642
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 'Thrombophilia' 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. 'Thrombophilia' diagnosis or history of diagnosis during a consultation

OR Secondary care (ICD10)

  1. ALL diagnoses of 'Thrombophilia' 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: 12
Code Description Disease Medcode Category
42Qc.00 Plasma activated protein C resistance Thrombophilia 23134.0 Diagnosis of Thrombophilia
42Qe.00 Factor V Leiden genotype Thrombophilia 8674.0 Diagnosis of Thrombophilia
42jH.00 Activated protein C with factor V deficient plasma Thrombophilia 30873.0 Diagnosis of Thrombophilia
43GE100 Lupus anticoagulant positive Thrombophilia 107447.0 Diagnosis of Thrombophilia
D303700 Factor V Leiden mutation Thrombophilia 25971.0 Diagnosis of Thrombophilia
D303800 Homozygous factor V Leiden mutation Thrombophilia 44146.0 Diagnosis of Thrombophilia
D303900 Heterozygous factor V Leiden mutation Thrombophilia 32933.0 Diagnosis of Thrombophilia
D309.00 Protein S deficiency Thrombophilia 8479.0 Diagnosis of Thrombophilia
D30A.00 Thrombophilia Thrombophilia 7516.0 Diagnosis of Thrombophilia
D30A000 Primary thrombophilia Thrombophilia 105875.0 Diagnosis of Thrombophilia
D30B.00 Protein C deficiency Thrombophilia 26102.0 Diagnosis of Thrombophilia
N006.00 Antiphospholipid syndrome Thrombophilia 12177.0 Diagnosis of Thrombophilia
Rows: 12
Code Description Disease ReadcodeDescr Readcode
105875.0 Diagnosis of Thrombophilia Thrombophilia Primary thrombophilia D30A000
107447.0 Diagnosis of Thrombophilia Thrombophilia Lupus anticoagulant positive 43GE100
12177.0 Diagnosis of Thrombophilia Thrombophilia Antiphospholipid syndrome N006.00
23134.0 Diagnosis of Thrombophilia Thrombophilia Plasma activated protein C resistance 42Qc.00
25971.0 Diagnosis of Thrombophilia Thrombophilia Factor V Leiden mutation D303700
26102.0 Diagnosis of Thrombophilia Thrombophilia Protein C deficiency D30B.00
30873.0 Diagnosis of Thrombophilia Thrombophilia Activated protein C with factor V deficient plasma 42jH.00
32933.0 Diagnosis of Thrombophilia Thrombophilia Heterozygous factor V Leiden mutation D303900
44146.0 Diagnosis of Thrombophilia Thrombophilia Homozygous factor V Leiden mutation D303800
7516.0 Diagnosis of Thrombophilia Thrombophilia Thrombophilia D30A.00
8479.0 Diagnosis of Thrombophilia Thrombophilia Protein S deficiency D309.00
8674.0 Diagnosis of Thrombophilia Thrombophilia Factor V Leiden genotype 42Qe.00
Rows: 2
Code Description Disease Category
D68.5 Primary Thrombophilia Thrombophilia Diagnosis of Thrombophilia
D68.6 Other Thrombophilia Thrombophilia Diagnosis of Thrombophilia

API

To Export Phenotype Details:

Format API
XML site_root/api/v1/public/phenotypes/PH321/version/642/detail/?format=xml
JSON site_root/api/v1/public/phenotypes/PH321/version/642/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('PH321', '642', api_client=client)

To Export Phenotype Code List:

Format API
XML site_root/api/v1/public/phenotypes/PH321/version/642/export/codes/?format=xml
JSON site_root/api/v1/public/phenotypes/PH321/version/642/export/codes/?format=json
CSV site_root/phenotypes/PH321/version/642/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('PH321', '642', api_client=client)

Version History

Version
ID
Name Owner Publish date
642 Thrombophilia 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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