eMERGE Phenotype WG
Height
Algorithm to select patients with height measures unaffected by environmental factors (i.e. diseases & medications) that can cause an abnormal change in height. Comprehensive documentation of the algorithm can be found here on this PheKB page. Similar to our T2DM algorithm, you can install an executable version of the algorithm implemented as workflows for the Konstanz Information Miner (KNIME) data mining tool.
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Herpes Zoster
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.
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High-Density Lipoproteins (HDL)
Algorithm to identify patients with low levels of high-density lipoproteins (HDL).
FLOWCHART of HDL Phenotyping Process
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Hypothyroidism
Project Outline: Selection of all Caucasian patients with hypothyroidism without a secondary cause of surgical removal or radiological ablation. The search is designed to eliminate subclinical hypothyroidism (by requiring that patients be on a replacement medication), medication-induced hypothyroidism (e.g., PTU, lithium, or history of amiodarone), and transient causes (e.g., pregnancy or subacute thyroiditis).
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Intellectual Disability
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Lipids
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Migraine
Migraine is the most common recurrent headache syndrome in children in which 4-10% of school age children may be affected (1). It is characterized by episodes of headache pain that may be accompanied by nausea, vomiting, and light and sound sensitivity. Migraine occurs at all ages and may even begin in infancy as represented by intermittent colic (1). The genes for familial hemiplegic migraine have been identified.
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Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD)
Non-alcoholic fatty liver disease (NAFLD)
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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.
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