Collaboration Phenotypes

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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
Coronary Heart Disease (CHD) ICD 10 Codes, ICD 9 Codes Algorithm for coronary heart disease (aka coronary artery disease) based on research done by the eMERGE Network. Cases are ascertained by either two ocurrences of diagnostic codes or one ocurrence of a procedural code. Defined as individuals with no diagnostic or procedural codes recorded. All ICD-9 and ICD-10 codes are labeled as diagnostic or procedural in the attached excel file. Final Johanna Smith Disease or Syndrome
Depression KPWA/UW CPT Codes, ICD 10 Codes, ICD 9 Codes, Medications 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.[1]  Electronic health record (EHR) data linked to large, multi-site biobanks[2] facilitate exploration of the genetic component of depression. Final David Carrell Disease or Syndrome
Diverticular Disease Severity, Left Colonic Vanderbilt University Medical Center CPT Codes, ICD 10 Codes, ICD 9 Codes This algorithm builds off prior phenotyping work from Pacheco & Thompson available in the PheKB phenotype "Diverticulosis and Diverticulitis" as well as the manuscripts from Joo et al (2023)(1) and De Roo et al (2023) (2) . Final Thomas Ueland Disease or Syndrome
DO NOT USE - Eating Disorders Vanderbilt University Medical Center CPT Codes, ICD 10 Codes, ICD 9 Codes This entry should be deleted Testing Lea Davis Disease or Syndrome
Eating disorders Vanderbilt University Medical Center ICD 10 Codes, ICD 9 Codes, Vital Signs Algorithm to identify Anorexia Nervosa, Bullimia Nervosa, and Eating Disorders NOS. Developed at VUMC and tested at MGH. Testing Lea Davis Disease or Syndrome
ECG Traits Extracted from Electrocardiograms using Natural Language Processing VUMC CPT Codes, ICD 10 Codes, ICD 9 Codes, Medications, Natural Language Processing Common genetic variants can be associated with electrocardiographic abnormalities, i.e. arrhythmias and conduction system disease. This algorithm provides a NLP tool to extract ECG traits from the interpretative text  generated in the ECG read. This includes: 1) Tachycardia and ectopy cases: Validated Davogustto, Giovanni Ernesto Disease or Syndrome, Other Trait
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
Febrile Neutropenia (Pediatric) Background: Febrile neutropenia (FN) is a serious complication of myelosuppressive chemotherapy, defined by fever occurring in the context of neutropenia. Prompt recognition and treatment are essential to reduce morbidity and mortality. Final Li yin Goh
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
Genotyping of Surgical Patients (NT460) Data This PheKB page is for uploading data that supports manuscript concept sheet NT460 Genotyping of surgical patients: A machine-learning tool for a future precision medicine approach for prevention of postoperative complications. Testing Mathias Aagaard Christensen
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

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