Phenotypes > CCU002_02 Hypercholesterolaemia

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CCU002_02 Hypercholesterolaemia

CVD-COVID-UK consortium, William N Whiteley, Samantha Ip, Jennifer A Cooper, Thomas Bolton, Spencer Keene, Venexia Walker, Rachel Denholm, Ashley Akbari, Efosa Omigie, Sam Hollings, Emanuele Di Angelantonio, Spiros Denaxas, Angela Wood, Jonathan A C Sterne, Cathie Sudlow

ID
PH1009
Version ID
2187
Type
Disease or Syndrome
Data Sources
GPES Data for Pandemic Planning and Research (COVID-19) , Hospital Episode Statistics Admitted Patient Care , Civil Registration - Deaths , Trusted Research Environments for CVD-COVID-UK / COVID-IMPACT , Secondary Uses Services Payment By Results
Valid event data range
08/12/2020 - 18/03/2021
Sex
♀  Female ♂  Male
Agreement Date
2021-08-23
Coding system
SNOMED CT codes
Collections
BHF Data Science Centre Phenotype Library
Tags
No tags

Definition

Code type is set to 1 for incident events, and 0 for prevalent events.

Publications

  • Association of COVID-19 vaccines ChAdOx1 and BNT162b2 with major venous, arterial, and thrombocytopenic events: whole population cohort study in 46 million adults in England CVD-COVID-UK consortium, William N Whiteley, Samantha Ip, Jennifer A Cooper, Thomas Bolton, Spencer Keene, Venexia Walker, Rachel Denholm, Ashley Akbari, Efosa Omigie, Sam Hollings, Emanuele Di Angelantonio, Spiros Denaxas, Angela Wood, Jonathan A C Sterne, Cathie Sudlow medRxiv 2021.08.18.21262222; doi: https://doi.org/10.1

Clinical Code List

Expand All  /  Collapse All
Rows: 31
Code Description terminology code_type
166831007 Serum cholesterol very high SNOMEDCT 1.0
190773008 Hyperbetalipoproteinemia (disorder) SNOMEDCT 1.0
190774002 Hyperlipidemia, group A (disorder) SNOMEDCT 1.0
238038003 Familial hyperlipoproteinemia (disorder) SNOMEDCT 1.0
238040008 Familial combined hyperlipidemia (disorder) SNOMEDCT 1.0
238076009 Primary hypercholesterolemia (disorder) SNOMEDCT 1.0
238077000 Polygenic hypercholesterolaemia SNOMEDCT 1.0
238078005 Familial hypercholesterolemia - homozygous (disorder) SNOMEDCT 1.0
238079002 Familial hypercholesterolemia - heterozygous (disorder) SNOMEDCT 1.0
238081000 Familial defective apolipoprotein B-100 (disorder) SNOMEDCT 1.0
238083002 Primary hypertriglyceridemia (disorder) SNOMEDCT 1.0
238086005 Fredrickson type I hyperlipoproteinemia (disorder) SNOMEDCT 1.0
238088006 Primary combined hyperlipidemia (disorder) SNOMEDCT 1.0
267432004 Pure hypercholesterolaemia SNOMEDCT 1.0
267434003 Mixed hyperlipidemia (disorder) SNOMEDCT 1.0
267435002 Familial hyperchylomicronemia (disorder) SNOMEDCT 1.0
33513003 Familial apolipoprotein C-II deficiency (disorder) SNOMEDCT 1.0
34349009 Familial type 5 hyperlipoproteinemia (disorder) SNOMEDCT 1.0
34528009 Familial hypertriglyceridemia (disorder) SNOMEDCT 1.0
397915002 Fredrickson type IIa hyperlipoproteinemia (disorder) SNOMEDCT 1.0
398036000 Familial hypercholesterolemia (disorder) SNOMEDCT 1.0
398796005 Familial type 3 hyperlipoproteinemia (disorder) SNOMEDCT 1.0
403829002 Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder) SNOMEDCT 1.0
403830007 Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder) SNOMEDCT 1.0
403831006 Familial hypercholesterolemia due to genetic defect of apolipoprotein B (disorder) SNOMEDCT 1.0
445010006 Low density lipoprotein receptor mutation (disorder) SNOMEDCT 1.0
473145005 Possible familial hypercholesterolemia (situation) SNOMEDCT 1.0
513831000000107 Possible heterozygous familial hypercholesterolaemia (situation) SNOMEDCT 1.0
57218003 Cholesterol ester storage disease (disorder) SNOMEDCT 1.0
867261000000106 Probable familial hypercholesterolaemia (situation) SNOMEDCT 1.0
925211000000100 Familial hypercholesterolaemia targeted genetic test (procedure) SNOMEDCT 1.0

API

To Export Phenotype Details:

Format API
XML site_root/api/v1/public/phenotypes/PH1009/version/2187/detail/?format=xml
JSON site_root/api/v1/public/phenotypes/PH1009/version/2187/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('PH1009', '2187', api_client=client)

To Export Phenotype Code List:

Format API
XML site_root/api/v1/public/phenotypes/PH1009/version/2187/export/codes/?format=xml
JSON site_root/api/v1/public/phenotypes/PH1009/version/2187/export/codes/?format=json
CSV site_root/phenotypes/PH1009/version/2187/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('PH1009', '2187', api_client=client)

Version History

Version
ID		 Name Owner Publish date
2187 CCU002_02 Hypercholesterolaemia ieuan.scanlon 2022-05-17 currently shown
2097 CCU002_02 Hypercholesterolaemia ieuan.scanlon 2022-05-09

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

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