eMERGE CHOP Group
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
Intellectual Disability
Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD)
Non-alcoholic fatty liver disease (NAFLD)
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.
Type 1 Diabetes
Phenotype Algorithm for Type 1 Diabetes – eMERGE Phase-IV Program
Type1 or Type 2 Diabetes Mellitus
Phenotyping algorithm for the identification of patients with type 1 or type 2 diabetes mellitus (DM) preoperatively using routinely available clinical data from electronic
health records.