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CCU002_01 Thrombophilia

Rochelle Knight, Venexia Walker, Samantha Ip, Jennifer A Cooper, Thomas Bolton, Spencer Keene, Rachel Denholm, Ashley Akbari, Hoda Abbasizanjani, Fatemeh Torabi, Efosa Omigie, Sam Hollings, Teri-Louise North, Renin Toms, Emanuele Di Angelantonio, Spiros Denaxas, Johan H Thygesen, Christopher Tomlinson, Ben Bray, Craig J Smith, Mark Barber, George Davey Smith, Nishi Chaturvedi, Cathie Sudlow, William N Whiteley, Angela Wood, Jonathan A C Sterne

Type
Disease or Syndrome
ID
PH985
Version ID
2163
Valid event data range
01/01/1997 - 07/12/2020
Sex
Female, Male
Agreement Date
2021-11-24
Coding system
Read codes v2 ICD10 codes SNOMED CT codes
Tags /Collections
BHF Data Science Centre Phenotype Library

Definition

Publications

  • Rochelle Knight, Venexia Walker, Samantha Ip, Jennifer A Cooper, Thomas Bolton, Spencer Keene, Rachel Denholm, Ashley Akbari, Hoda Abbasizanjani, Fatemeh Torabi, Efosa Omigie, Sam Hollings, Teri-Louise North, Renin Toms, Emanuele Di Angelantonio, Spiros Denaxas, Johan H Thygesen, Christopher Tomlinson, Ben Bray, Craig J Smith, Mark Barber, George Davey Smith, Nishi Chaturvedi, Cathie Sudlow, William N Whiteley, Angela Wood, Jonathan A C Sterne, for the CVD-COVID-UK/COVID-IMPACT consortium and th

Clinical Code List

Rows: 20
Code Description terminology code_type
234467004 Thrombophilia SNOMEDCT 1
439001009 Acquired thrombophilia SNOMEDCT 1
439002002 Thrombophilia due to acquired protein C deficiency SNOMEDCT 1
439125003 Thrombophilia due to acquired protein S deficiency SNOMEDCT 1
439126002 Thrombophilia due to acquired antithrombin III deficiency SNOMEDCT 1
439698008 Primary thrombophilia SNOMEDCT 1
441079006 Thrombophilia due to antiphospholipid antibody SNOMEDCT 1
441697004 Thrombophilia associated with pregnancy SNOMEDCT 1
441762006 Thrombophilia due to immobilisation SNOMEDCT 1
441882000 History of thrombophilia SNOMEDCT 1
441945008 Thrombophilia due to trauma SNOMEDCT 1
441946009 Thrombophilia due to myeloproliferative disorder SNOMEDCT 1
441990004 Thrombophilia due to paroxysmal nocturnal haemoglobinuria SNOMEDCT 1
442078001 Thrombophilia due to malignant neoplasm SNOMEDCT 1
442121006 Thrombophilia due to vascular anomaly SNOMEDCT 1
442197003 Thrombophilia caused by drug therapy SNOMEDCT 1
442363001 Thrombophilia caused by vascular device SNOMEDCT 1
442654007 Thrombophilia caused by hormone therapy SNOMEDCT 1
442760001 Thrombophilia caused by antineoplastic agent therapy SNOMEDCT 1
783250007 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency SNOMEDCT 1
Rows: 2
Code Description terminology code_type
D68.5 Primary thrombophilia ICD10 1
D68.6 Other thrombophilia ICD10 1
Rows: 12
Code Description Category Phenotype
42Qc. Plasma activated protein C resistance Diagnosis of Thrombophilia THROMBOPHILIA
42Qe. Factor V Leiden genotype Diagnosis of Thrombophilia THROMBOPHILIA
42jH. Activated protein C with factor V deficient plasma Diagnosis of Thrombophilia THROMBOPHILIA
43GE1 Lupus anticoagulant positive Diagnosis of Thrombophilia THROMBOPHILIA
D3037 Factor V Leiden mutation Diagnosis of Thrombophilia THROMBOPHILIA
D3038 Homozygous factor V Leiden mutation Diagnosis of Thrombophilia THROMBOPHILIA
D3039 Heterozygous factor V Leiden mutation Diagnosis of Thrombophilia THROMBOPHILIA
D309. Protein S deficiency Diagnosis of Thrombophilia THROMBOPHILIA
D30A. Thrombophilia Diagnosis of Thrombophilia THROMBOPHILIA
D30A0 Primary thrombophilia Diagnosis of Thrombophilia THROMBOPHILIA
D30B. Protein C deficiency Diagnosis of Thrombophilia THROMBOPHILIA
N006. Antiphospholipid syndrome Diagnosis of Thrombophilia THROMBOPHILIA

API

To Export Phenotype Details:

Format API
XML site_root/api/v1/public/phenotypes/PH985/version/2163/detail/?format=xml
JSON site_root/api/v1/public/phenotypes/PH985/version/2163/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('PH985', '2163', api_client=client)

To Export Phenotype Code List:

Format API
XML site_root/api/v1/public/phenotypes/PH985/version/2163/export/codes/?format=xml
JSON site_root/api/v1/public/phenotypes/PH985/version/2163/export/codes/?format=json
CSV site_root/phenotypes/PH985/version/2163/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('PH985', '2163', api_client=client)

Version History

Version
ID
Name Owner Publish date
2163 CCU002_01 Thrombophilia ieuan.scanlon 2022-05-17 currently shown
2049 CCU002_01 Thrombophilia ieuan.scanlon 2022-05-09

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

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