Collaboration Phenotypes

Contact authors listed below are open to engaging others in the development of their phenotypes. Unless the status of the phenotype is marked as final, these phenotypes cannot be viewed in-depth until the author has shared access with you and you have logged into PheKB. Click on an author's name to send an email to him or her expressing your interest in collaborating.

Title Institution Phenotype Attributes Description Status Contact Author Type of Phenotype
Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Mayo Clinic CPT Codes, ICD 9 Codes, Laboratories, Medications, Natural Language Processing 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). Final Maya Safarova Disease or Syndrome
Functional seizures Vanderbilt University Medical Center CPT Codes, ICD 10 Codes, ICD 9 Codes, Natural Language Processing Algorithm to detect functional seizures, also known as: Psychogenic nonepileptic seizures Nonepileptic attack disorder Pseudoseizures Hystero-epilepsy Conversion disorder with seizures Dissociative Seizures Final Slavina Goleva Disease or Syndrome
Heparin-induced thrombocytopenia (HIT) Vanderbilt University ICD 9 Codes, Laboratories, Medications, Natural Language Processing In development Jason Hansen Karnes Disease or Syndrome, Drug Response - adverse effect or efficacy
Laboratory based definition for Acute Kidney Injury PCCI ICD 10 Codes, Laboratories Developed as a supplement to ICD Pieces trial –UH3DK104655   In development George Oliver Disease or Syndrome
Major Adverse Cardiac Events while on Clopidogrel Vanderbilt University CPT Codes, ICD 9 Codes, Medications Patients with Major Adverse Cardiac Events (MACE) while on Clopidogrel. A MACE event can be either a revascularization event (bypass surgery or angioplasty/intracardiac stenting) or an acute myocardial infarction (AMI). A revascularization event is defined by the presence of a bypass, an angioplasty or a stent CPT code. An AMI event has been illustrated in our previous algorithm. Testing Wei-Qi Wei Drug Response - adverse effect or efficacy
Multimodal Analgesia Stanford University School of Medicine CPT Codes, ICD 10 Codes, ICD 9 Codes, Medications Described in this document are the Stanford University algorithms for extracting both cases and controls of Multimodal analgesia from electronic health records (EHR) for surgical patients. Final Tina Hernandez-Boussard Other Trait
Obsessive-compulsive disorder Vanderbilt University Medical Center ICD 10 Codes, ICD 9 Codes, Medications, Natural Language Processing This algorithm for obsessive-compulsive disorder was developed from March 2016 to September 2017 at VUMC in collaboration with the OCD Psychiatric Genomcis Consortium workgroup and clinicans at VUMC. It has been internally valdiated and is now ready for validation at another PsycheMERGE site.  Testing Lea Davis Disease or Syndrome
Ovarian/Uterine Cancer (OvUtCa) KPWA/UW CPT Codes, ICD 10 Codes, ICD 9 Codes, Laboratories, Medications, Vital Signs 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 Final David Carrell Disease or Syndrome
Peanut Allergy Vanderbilt University, Vanderbilt University Medical Center CPT Codes, Laboratories Food allergy is defined as an immune response that occurs reproducibly to a given food, typically an immunoglobulin E (IgE)-mediated clinical reaction to specific protein epitopes.  Over the last 20-30 years, food allergy has grown into a major public health problem. Final Jonathan Hemler Disease or Syndrome
Pediatric Lipid Distribution for Development of Pediatric Familial Hypercholesterolemia Geisinger ICD 10 Codes, ICD 9 Codes, Laboratories, Medications Primary aims of the peds FH phenotyping are: In development Ken Borthwick Other Trait
Post-operative Complications from Major General Surgeries Algorithm Vanderbilt CPT Codes, ICD 9 Codes Post-operative Complications as defined by the American College of Surgeon's National Surgical Quality Improvement Program (NSQIP) are a set of 21 clinical conditions that occur 30 days from the date of operation. Testing Tom Mou Disease or Syndrome
Rheumatology Auto-Immune characteristics Harvard Medical School Laboratories, Medications Dear, To identify cases with auto-immune rheumatologic phenotye (for  NT198) we request information about auto-antibody (whether it was tested and what the restults were) and drug information (whether it was prescribed) for each patients that is enrolled in eMERGE. We are requesting every mention of any of the expanded generic drugs. Final Rachel Knevel Other Trait
RxNorm RxCUI codes for Cancer Therapies University of Iowa Medications This phenotype includes RxNorm RxCUI codes for cancer therapies. These codes map to drug records in the PCORnet Common Data Model and other data sources. The phenotype was developed in 2019. Please see the associated files for additional information.  Final Ryan Carnahan Other Trait
Sickle Cell Disease Medical College of Wisconsin ICD 9 Codes Final Daniel Michalik Disease or Syndrome
Statins and MACE Vanderbilt University CPT Codes, ICD 9 Codes, Laboratories, Natural Language Processing Phenotype Description:  Patients on statins for primary prevention who develop an AMI or 1st AMI.  Below are algorithms used to identify AMI and 1st AMI cohort at BioVU. If you have questions regarding any of the information presented on this page, you may contact either: Wei-Qi Wei at Final Wei-Qi Wei Drug Response - adverse effect or efficacy