Laboratories

Clostridium Difficile Colitis

Clostridium difficile, also known as "C. diff," is a species of bacteria that causes severe diarrhea and other intestinal disease when competing bacteria in the gut have been wiped out by antibiotics (see Wikipedia entry). In rare cases a C. diff infection can progress to toxic megacolon which can be life-threatening. In a very small percentage of the adult population C. difficile bacteria naturally reside in the gut. Other people accidentally ingest spores of the bacteria while patients in a hospital or nursing home.

Validation:

Owner Phenotyping Groups: 
Clostridium Difficile Colitis Phenotype Group
eMERGE GHC/University of Washington Group
eMERGE Vanderbilt Group
View Phenotyping Groups: 
Clostridium Difficile Colitis Phenotype Group
Denny’s Group at Vandy
eMERGE Phenotype WG
Final

Colorectal Cancer (CRC)

A pheontype defining patients with strong evidence of having been diagnosed with colorectal cancer (cases) and patients who clearly do not have such diagnoses (controls).  This phenotype is being used for sequencing studies. The only NLP involved in this phenotype is a very simple string search applied to pathology reports.

Owner Phenotyping Groups: 
eMERGE GHC/University of Washington Group
View Phenotyping Groups: 
Clostridium Difficile Colitis Phenotype Group
Denny’s Group at Vandy
eMERGE CCHMC/BCH Group
eMERGE CHOP Group
eMERGE Columbia Group
eMERGE Geisinger Group
eMERGE GHC/University of Washington Group
eMERGE Harvard Group
eMERGE Marshfield Group
eMERGE Mayo Group
eMERGE Mount Sinai Group
eMERGE Northwestern Group
eMERGE Phenotype WG
eMERGE Vanderbilt Group
GPC
NIH Collaboratory Group
PCORI CDRN/PPRN
PCORI MidSouth CDRN
PGPop WG
PGx model group
PGx Workgroup
PheMA Test Group
Resistant hypertension WG
Vanderbilt - SD/RD Group
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
Final

Drug Induced Liver Injury

An algorithm to identify inpatients who have had an acute episode of drug induced liver injury (DILI).

Summary of drug-induced liver injury algorithm

Inclusion criteria

A. Suspect DILI? (NOTE: baseline population is institution specific.  See institution implementation details)

1.     Liver injury AND Exposure to drug (NOTE: medications are institution specific. See institution implementation details)

2.     Temporal relationship of exposure to drug and liver injury diagnosis.

Owner Phenotyping Groups: 
eMERGE Mount Sinai Group
View Phenotyping Groups: 
eMERGE Phenotype WG
Final

Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a relatively common Mendelian genetic disorder that is associated with elevated plasma low-density lipoprotein cholesterol (LDL-C) levels and dramatically increased lifetime risk for premature atherosclerotic cardiovascular disease (ASCVD). FH can be diagnosed based on clinical presentation and/or genetic testing results, with a positive genetic testing considered to be the “gold standard”.

Owner Phenotyping Groups: 
eMERGE Mayo Group
View Phenotyping Groups: 
eMERGE Geisinger Group
eMERGE Phenotype WG
Final

Height

Algorithm to select patients with height measures unaffected by environmental factors (i.e. diseases & medications) that can cause an abnormal change in height. Comprehensive documentation of the algorithm can be found here on this PheKB page. Similar to our T2DM algorithm, you can install an executable version of the algorithm implemented as workflows for the Konstanz Information Miner (KNIME) data mining tool.

Owner Phenotyping Groups: 
eMERGE Northwestern Group
View Phenotyping Groups: 
eMERGE Phenotype WG
Final

HIV

Algorithm for the identification of all patients aged 13 or older with HIV in an electronic health record dataset. 

Final

Hypothyroidism

Project Outline:  Selection of all Caucasian patients with hypothyroidism without a secondary cause of surgical removal or radiological ablation.  The search is designed to eliminate subclinical hypothyroidism (by requiring that patients be on a replacement medication), medication-induced hypothyroidism (e.g., PTU, lithium, or history of amiodarone), and transient causes (e.g., pregnancy or subacute thyroiditis).

Owner Phenotyping Groups: 
eMERGE Vanderbilt Group
View Phenotyping Groups: 
eMERGE Phenotype WG
Final

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