Non-hispanic

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

Hearing Loss

Phenotype Description:  individuals with sensorineural hearing loss (SNHL)
Below are algorithms used to identify individuals with SNHL at BioVU. If you have questions regarding any of the information presented on this page, you may contact either:
Wei-Qi Wei at wei-qi.wei@vanderbilt.edu or Joshua Denny at josh.denny@vanderbilt.edu

Owner Phenotyping Groups: 
Denny’s Group at Vandy
eMERGE Phenotype WG
eMERGE Vanderbilt Group
View Phenotyping Groups: 
Denny’s Group at Vandy
eMERGE CCHMC Group
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 Meharry Group
eMERGE Mount Sinai Group
eMERGE Northwestern Group
eMERGE Phenotype WG
eMERGE Vanderbilt Group
Vanderbilt - SD/RD Group
Final

Herpes Zoster

Herpes zoster, also known as zoster or shingles, is caused by a virus called varicella zoster virus (VZV). Initial infection with the virus causes chickenpox. After chickenpox resolves the virus continues to resides in certain nerve cells. It may remain latent for many years. It may also re-activate, many years later, and cause shingles which is a painful skin rash. How the virus remains latent in the body is not well understood.

Owner Phenotyping Groups: 
eMERGE GHC/University of Washington 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

Opioid-exposed infants

Objective
Observational studies examining outcomes among opioid-exposed infants are limited by phenotype algorithms that may under identify opioid-exposed infants without neonatal opioid withdrawal syndrome (NOWS). We developed and validated the performance of different phenotype algorithms to identify opioid-exposed infants using electronic health record (EHR) data.

Owner Phenotyping Groups: 
Vanderbilt University Medical Center - Wei Lab
View Phenotyping Groups: 
Vanderbilt University Medical Center - Wei Lab
Final

Ovarian/Uterine Cancer (OvUtCa)

The KPWA/UW-led ovarian/uterine cancer phenotype has been validated at Mayo Clinic, the secondary phenotype development site.  Validation results at both the primary and secondary sites were strong and the phenotype is ready for network wide implementation.  The pseudo code document posted 11/30/2017 is correct as is and should be used by network sites for phenotype implementation.  A validated data dictionary of covariates for this phenotype will be added to PheKB by 2/15/2018, but sites are encouraged to begin implementing the phenotype algorithm now.

Owner Phenotyping Groups: 
eMERGE GHC/University of Washington Group
View Phenotyping Groups: 
eMERGE CCHMC Group
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 Meharry Group
eMERGE Mount Sinai Group
eMERGE Northwestern Group
eMERGE Phenotype WG
eMERGE Vanderbilt Group
Final

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