Depression accounts for substantial morbidity and mortality worldwide and risk of experiencing it may have a genetic component. Depressive disorders manifest along a gradient from mild to severe. Electronic health record (EHR) data linked to large, multi-site biobanks facilitate exploration of the genetic component of depression.
Pacific Islander (Polynesian, Micronesian, Hawaiian, etc.)
Version 1.0, July 2020
Automated Phenotyping Tool for identifying DLD cases in health-systems data (APT-DLD) is an algorithm for classifying/identifying developmental language disorder cases in electronic health records system data. APT-DLD can be used to:
1. Identify pediatric DLD cases from electronic health record systems using ICD9 and ICD10 codes
2. Study epidemiology and population-level charateristics of DLD from EHRs
The How-To guide for using APT-DLD is provided in the files listed below.
An algorithm for finding patients with diverticulosis, and of those, patients who also have diverticulitis, and to also find control patients. Control patients will have had a colonoscopy but have no evidence of diverticula.
Simple NLP (a portable program is posted here, with instructions, and support is availabe from NU as needed) of colonoscopy reports is the gold standard algorithm, but if the text of colonoscopy reports is not available, an alternate algorithm using CPT & ICD-9 codes can be used, which is also posted.
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 firstname.lastname@example.org or Joshua Denny at email@example.com
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.
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.