Measure Final Measures To Toolkit
Arm Span Arm Span
Birth Weight Birth Weight
Body Composition Body Composition
Body Image Body Image
Child Head Circumference Child Head Circumference
Dominance Hand Dominance
Estimated Visceral Fat  
Height Height
Hip Circumference Hip Circumference
Maximum Adult Height Maximum Adult Height
Maximum Adult Weight Maximum Adult Weight
Mid-Upper Arm Circumference Mid-Upper Arm Circumference
Neck Circumference Neck Circumference
Parental Height  
Parental Weight  
Pregnancy Weight Pregnancy Weight Gain
Sitting Height/Trunk  
Waist Circumference Waist Circumference
Weight Weight
Weight Loss/Gain Weight Loss/Gain


Element Considered Final Measures in Toolkit
Time/Age Current Age
Ancestry Birthplace of Parents; Birthplace of Grandparents
Race/Ethnicity Race; Ethnicity
Sex/Gender Gender
Geographic Information Systems (GIS)/location (current/past/birth Birthplace; Current Address
Marital Status Current Marital Status
Education Current Educational Attainment
Income/Wealth Annual Family Income
Employment Status Current Employment Status
Social Position  
Health Care Health Insurance Coverage
Household Roster Household-Roster Relationships
Years in the U.S. Years Living in the U.S.

Rare Genetic Conditions

The scope will be to add up to 15 new rare genetic conditions measures to the PhenX Toolkit and to annotate existing measures that are relevant to rare genetic conditions.

The new measures will cover the organ systems listed below, and specifically with respect to the genetic aspects. Gaps in the Toolkit will be identified by WG member review or the annotation process.

  • family history
  • cardiac and vascular
  • pulmonary
  • renal
  • urogenital/reproductive
  • endocrine
  • hematological
  • metabolic
  • musculoskeletal
  • neurologic
  • ocular
  • hearing
  • craniofacial and dental/oro-facial
  • dermatologic
  • mutation


Measure Final Measure to Toolkit
Personal History of Conditions and Symptoms  
Pneumonia, sarcoidoses Personal and Family History of Respiratory Symptoms/Diseases (Adult and Child)
Chronic obstructive pulmonary disease (COPD) Personal and Family History of Respiratory Symptoms/Diseases (Adult and Child)
Lung cancer  
Symptoms, such as wheezing, shortness of breath Quality of Life as Affected by Respiratory Disease
Trauma (acute respiratory disorder)  
Allergic reactions to drugs  
Bronchitis, pleurisy Personal and Family History of Respiratory Symptoms/Diseases (Adult and Child)
Asthma Personal and Family History of Respiratory Symptoms/Diseases (Adult and Child)
Sleep apnea, sleep Sleep Apnea
History of prematurity and early respiratory infections Personal and Family History of Respiratory Symptoms/Diseases (Adult and Child)
Pediatric lung diseases, newborn  
Risk factors (past and present)  
Exposures Cotinine
Geographic history of patient (histoplasmosis)  
Institutional residence (prisoner, nursing home)  
Family history (see Personal history of conditions and symptoms) Personal and Family History of Respiratory Symptoms/Diseases (Adult and Child)
Biologic and physiologic assessments  
Infectious organisms (pneumococci, staphylococci, gram-negative bacilli  
Opportunistic microbes (candida, aspergillus, cytomegalovirus)  
Manifestations (dyspnea, cough, hemoptysis [blood in sputum], abnormal production of sputum, cyanosis [bluish discoloration of skin], thoracic pain [pleuritic, pulmonary, chest wall, cardiac], fever)  
Blood dyscrasia  
Lipoid pneumonia caused by nose drops  
Klebsiella pneumonia in chronic alcoholics  
Pulmonary function tests (PFT) for: obstructive disease of the airways; restrictive lung disease; alveolar hypoventilation due to malfunctioning of the chest bellows or control mechanisms; and obliterative vascular disease. Original element broken into three specific measures: Spirometry, Peak Expiratory Flow Rate (PEFR), and Bronchodilator Responsiveness (BDR)
Pulmonary embolism  
Treatments and procedures (past and present)  
Radiologic evaluation (chest X-ray or CXR)  
Drug treatments
  Chest Computed Tomography (CT)
  Immunoglobulin E (Total and Specific)
  Pulse Oximetry (rest)
  Pulse Oximetry (exercise)
  Included as a supplemental measure
  Arterial Blood Gas (ABG)
  Exercise Capacity/Six-Minute Walk Test
  Allergy Skin Prick Test (Supplmental)

Social Environments

Element Considered Final Measure to Toolkit
Family Family Conflict
Family Control and Organization
Family Interpersonal Relationships
Neighborhood/Community Discrimination
Healthy Food Environments
Neighborhood Collective Efficacy - Community Cohesion and Informal Social Control
Neighborhood Concentrated Disadvantage
Neighborhood Safety
Race/Ethnicity Residential Segregation
Networks/Peers Social Networks
Residential/Living Arrangements  
Schools School Social Environment
Social Engagement  
Stress/Life Events Child-Reported Parental Education Attainment
Childhood Maltreatment
Life Events
Workplace Job Related Stress


Element Considered Final Measures To Toolkit
Blood Glucose Fasting Plasma Glucose for Diabetes Screening
Glycosylated Hemoglobin Assay that Reflects Long-Term Glucose Concentration
Oral Glucose Tolerance Test
Cystatin C  
Complications Associated with Diabetes Diabetic Peripheral Neuropathy
Diabetic Retinopathy
Personal History of Kidney Failure
Drug Treatments and Pharmaceuticals Medication Inventory
Family History Family History of Diabetes
History of Diabetes (Types 1 & 2) Autoimmune Diseases Related to Type 1 Diabetes
Personal History of Type 1 and Type 2 Diabetes
Urinary Albumin Urinary Microalbumin Assay for Kidney Function
Urinary Creatinine Assay for Kidney Function
Serum Creatinine Serum Creatinine Assay for Kidney Function
Serum Insulin Fasting Serum Insulin
Fasting C-peptide Assay for Residual Beta Cell Function