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 |
|---|---|---|---|---|---|---|
| Computable Phenotypes for Identifying Patients with Lung and Gastroenteropancreatic Neuroendocrine Tumors in PCORnet | University of Iowa | This phenotype specification supports the identification of patients with lung and gastroenteropancreatic (GEP) neuroendocrine tumors (NETs) for the Neuroendocrine Tumors- Patient-Reported Outcomes Study (NET-PRO) - a multi-site, patient-centered outcomes research initiative (PCORI) funded study (RD-2020C2-20329) conducted within PCORnet. | Final | Bradley McDowell | ||
| Consistent Care | Harvard University | CPT Codes, ICD 10 Codes, ICD 9 Codes | Final | Elizabeth Wood Karlson | Other Trait | |
| 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 | |||
| HbA1C | This is the PRIMED Consortium algorithm to obtain a single Hba1c value per individual to use in analyses. Here is the overall procedures: | Final | Johanna Smith | |||
| 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 |