Phenotype Library | phenotype: Thrombophilia

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

PH321

Version ID

642

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 '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

'Thrombophilia' diagnosis or history of diagnosis during a consultation

OR Secondary care (ICD10)

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

Implementation

PhenoFlow Implementation:

https://kclhi.org/phenoflow/phenotype/download/937

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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C1606/4351 Thrombophilia - Primary care - Read codes v2

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

C1607/4353 Thrombophilia - Primary care - Med codes

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

C1608/4355 Thrombophilia - Secondary care - Diagnoses - ICD10 codes

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