DCC phenotype tagging details

Updated 05/10/2021

This page provides additional information about finding the results of the DCC’s phenotype tagging project. All tags have been mapped to a UMLS Concept Unique Identifier (CUI), which is required for identifying the tagged variables on dbGaP.

Instructions for identifying tagged variables on dbGaP

Please see our YouTube demo showing how to search for tagged variables on dbGaP. The following are examples of different methods to search for tagged variables.

Entrez search

  • In your web browser, visit the dbGaP Entrez advanced search page
    • You can navigate here by clicking on the Advanced link under the Entrez search box at the top of the dbGaP home page
  • In the search builder, select Common Data Element Resource and enter “umls” into the associated text box or add “umls[Common Data Element Resource]” to the search box at the top of the page and click on the Search button
    • The Studies tab of the search results displays all of the studies that contain tagged variables
    • The Variables tab of the search results displays all of the dbGaP variables that are tagged with at least one UMLS term
    • Click on a variable name to see more information on the variable page
  • In the search builder, select Common Data Element Term and enter the CUI of a UMLS term into the associated text box or add “C0005890[Common Data Element Term]” to the search box at the top of the page and click on the Search button
    • The Studies tab of the search results display all of the studies that contain variables tagged with that UMLS term
    • The Variables tab of the search results displays all of the dbGaP variables that are tagged with that UMLS term
    • Click on a variable name to see more information on the variable page

Faceted search

  • In your web browser, visit the dbGaP faceted search page
    • You can navigate here by visiting the Advanced Search link under Access dbGaP Data on the dbGaP home page
  • Click on the Variables tab
  • Under the Common Data Elements filter, check UMLS
    • This will display all of the dbGaP study variables that are tagged with a UMLS term
  • For a given variable listed on the right, you can click on the UMLS link to go directly to the variable’s information page with the full UMLS term name
  • To search for variables tagged with a specific UMLS term, search for the term’s CUI in the search box in the upper left corner of the page

Variable page

  • You can access a Variable page for any dbGaP variable by clicking on the variable name in a search results list
  • If the variable has been tagged with a UMLS term, the variable page will have a Terms Linked to this Variable section, which will contain a table displaying information for any UMLS terms linked to the given variable
    • You can follow a link from this table to a list of all variables tagged with the same UMLS term (an Entrez search results page)

The 65 phenotype tags mapped to UMLS concepts

The DCC has mapped each tag to the UMLS CUI that most closely matches the tag definition.

Phenotype Domain Tag name (phenotype concept) Description UMLS CUI UMLS term
Demographics Gender Self-reported sex or gender identity C0017249 Gender identity
Demographics Race/ancestry/ethnicity Self-reported race, ancestry or ethnicity C1830369 Race or ethnicity
Anthropometry Height Standing body height measurement C0005890 Body height
Anthropometry Weight Body weight measurement C0005910 Body weight
Anthropometry BMI Body mass index (weight divided by the square of height) C1305855 Body mass index
Anthropometry Waist circumference Waist circumference measurement C0455829 Waist circumference
Anthropometry Hip circumference Hip circumference measurement C0562350 Hip circumference
Anthropometry Waist-hip ratio Ratio of waist to hip circumference C0205682 Waist-hip ratio
Cardiovascular disease CAC Quantitative measure of coronary artery calcification (CAC) by computed tomography (CT) scan C1611184 Calcification of coronary artery
Cardiovascular disease Carotid IMT Quantitative measure of carotid intima media thickness (IMT) by ultrasound C1960466 Carotid Intima-Media Thickness
Cardiovascular disease Myocardial infarction Qualitative indicator of myocardial infarction (MI) status C2926063 Myocardial infarction:Finding:Point in time:^Patient:Ordinal
Cardiovascular disease Coronary angioplasty Qualitative indicator of coronary angioplasty status C3542439 presence of coronary angioplasty implant and graft (physical finding)
Cardiovascular disease Coronary artery bypass graft Qualitative indicator of coronary artery bypass graft (CABG) status C0585628 Presence of coronary artery bypass graft
Cardiovascular disease Heart failure Qualitative indicator of heart failure status C0018801 Heart failure
Blood pressure Resting arm systolic BP Quantitative measure of resting systolic blood pressure C2039694 Systolic blood pressure at rest
Blood pressure Resting arm diastolic BP Quantitative measure of resting diastolic blood pressure C2183311 Diastolic blood pressure at rest
Blood pressure Hypertension Qualitative indicator of hypertension status C3843080 Hypertension or high blood pressure
Diabetes Blood glucose Quantitative measure of the concentration of glucose in blood. C1320980 Blood glucose status
Diabetes Insulin in blood Quantitative measure of the concentration of insulin in blood. C0428405 Insulin level result
Diabetes HbA1c Quantitative measure of the concentration of glycated hemoglobin (hemoglobin A1c, or HbA1c) in blood C1261236 Hemoglobin A1c level result
Diabetes Diabetes Qualitative indicator of diabetes mellitus status C0011849 Diabetes Mellitus
EKG/Arrhythmia Atrial fibrillation/flutter Qualitative indicator of atrial fibrillation or atrial flutter status C0155709 Atrial fibrillation and flutter
EKG/Arrhythmia QRS duration from EKG Quantitative measure of QRS duration from electrocardiogram (EKG) data C0429025 QRS complex duration (observable entity)
EKG/Arrhythmia QT interval from EKG Quantitative measure of QT interval from electrocardiogram (EKG) data C0429028 QT interval feature (observable entity)
EKG/Arrhythmia PR interval from EKG Quantitative measure of PR interval from electrocardiogram (EKG) data C0520877 PR interval feature
EKG/Arrhythmia Resting heart rate from EKG Quantitative measure of heart rate (HR) from electrocardiogram (EKG) data C2041121 electrocardiogram rhythm strip 3-lead heart rate (bpm)
EKG/Arrhythmia LVH from EKG Quantitative index of left ventricular hypertrophy (LVT) calculated from electrocardiogram (EKG) data C0232306 Electrocardiogram: left ventricle hypertrophy (finding)
EKG/Arrhythmia Pacemaker Qualitative indicator of pacemaker implant status C1533090 Pacemaker observable
Hematology & Hemostasis Hematocrit Quantitative measure of the fraction of blood volume that is composed of red blood cells C0518014 Hematocrit level
Hematology & Hemostasis Hemoglobin Quantitative measure of hemoglobin concentration in blood C0019029 Hemoglobin concentration result
Hematology & Hemostasis Platelet count Quantitative measure of platelet cell number per volume of blood C1287267 Finding of platelet count
Hematology & Hemostasis Red blood cell count Quantitative measure of red blood cell number per volume of blood C1287262 Finding of red blood cell count
Hematology & Hemostasis White blood cell count Quantitative measure of white blood cell number per volume of blood C0427512 White blood cell count laboratory result
Hematology & Hemostasis Fibrinogen in blood Quantitative measure of fibrinogen concentration in blood C1318051 Fibrinogen level result
Hematology & Hemostasis Factor VII Quantitative measure of factor VII activity or concentration in blood C0427593 Factor VII level
Hematology & Hemostasis Factor VIII Quantitative measure of factor VIII activity or concentration in blood C0457997 Factor VIII level
Hematology & Hemostasis von Willebrand factor Quantitative measure of von Willebrand factor (vWf) activity or concentration in blood C0427585 vWF - von Willebrand factor level result
Hematology & Hemostasis VTE Qualitative indicator of venous thromboembolism (VTE) status C1861172 venous thromboembolism
Inflammation CRP in blood Quantitative measure of C-reactive protein (CRP) concentration in blood C0428528 C-reactive protein level
Inflammation Interleukin 6 in blood Quantitative measure of Interleukin 6 (IL-6) concentration in blood C0366888 Interleukin 6:ACnc:Pt:Ser/Plas:Qn
Kidney function Creatinine in blood Quantitative measure of creatinine concentration in blood C0428279 Finding of creatinine level
Kidney function Cystatin C in blood Quantitative measure of cystatin C concentration in blood C1445989 Blood cystatin C measurement
Kidney function Albumin-creatinine ratio in urine Quantitative measure of the ratio of albumin concentration to creatinine concentration in urine C1318330 Urine albumin:creatinine ratio result
Kidney function GFR Quantitative measure of glomerular filtration rate (GFR) C4524116 Estimated GFR
Lipids LDL in blood Quantitative measure of low-density lipoprotein (LDL) cholesterol concentration in blood C2603388 Cholesterol.in LDL [Mass or Molecules/volume] in Serum or Plasma
Lipids HDL in blood Quantitative measure of high-density lipoprotein (HDL) cholesterol concentration in blood C2603387 Cholesterol.in HDL [Mass or Molecules/volume] in Serum or Plasma
Lipids Triglycerides in blood Quantitative measure of triglyceride concentration in blood C0428475 Triglyceride level - finding
Lipids Total cholesterol in blood Quantitative measure of total cholesterol concentration in blood C0201950 Cholesterol measurement test
Lung FVC Quantitative measure of forced vital capacity (FVC) measured using spirometry C3714541 Forced Vital Capacity
Lung FEV1 Forced expiratory volume in 1 second (FEV1) measured using spirometry C0802965 Volume^at 1.0 s post forced expiration:Volume:Point in time:Respiratory system:Quantitative
Lung Asthma Qualitative indicator of asthma status C1272273 Asthma finding
Lung Asthma severity Qualitative and quantitative measures of asthma severity C0581122 Asthma severity
Lung COPD Qualitative indicator of Chronic Obstructive Pulmonary Disease (COPD) status C0024117 Chronic Obstructive Airway Disease
Sleep Sleep apnea Qualitative indicator of sleep apnea status C0037315 Sleep Apnea Syndromes
Sleep AHI Quantitative measure of Apnea-Hypopnea Index (AHI), a measure of sleep apnea severity C2111846 Apnea-hypopnea index procedure
Smoking Cigarette smoking Qualitative and quantitative measures of cigarette smoking history and cigarette smoking status C1519384 Smoking History
Stroke Ischemic stroke Qualitative indicator of ischemic stroke status C0948008 Ischemic stroke
Stroke Hemorrhagic stroke Qualitative indicator of hemorrhagic stroke status C0553692 Brain hemorrhage
Stroke Other stroke Qualitative indicator of other/unspecified stroke status C4489300 Stroke- other stroke
Supporting phenotypes Age at enrollment/collection Participant age at enrollment or age at which data or biosamples were collected C0001779 Age
Supporting phenotypes Subcohort Categorical indicator of membership in different study subcohorts (i.e. participant subsets within a study who were recruited at different times and/or enrolled in different sub-studies) C0599755 Cohort
Supporting phenotypes Clinic visit Categorical indicator of the clinical visit (exam, year, etc.) during which observations, measurements and/or other data/biosample collections were made C0008952 Clinic Visits
Supporting phenotypes Fasting Qualitative or quantitative indicator describing or quantifying fasting status prior to blood draw for any blood sample-derived measurement C1976106 Fasting Status
Supporting phenotypes Geographic site Categorical indicator of the clinic, recruitment site, and/or field center at which participants were recruited, and/or where data or biosamples were collected. C2828208 Locality
Supporting phenotypes Medication/supplement use Qualitative or quantitative indicator of use of any kind of medication, vitamin, mineral, or dietary supplement C0240320 medication use

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