C12216
Gastrointestinal therapy feed formula dose
Dose, in mL, of formula that the participant/subject receives at each feeding for non-continuous feeding
Supplemental
Gastrointestinal Therapies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12495
Imaging pons abnormality type
The type of abnormality in the pons on the image
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18708
Imaging pulse sequence type other text
The free-text field related to 'Imaging pulse sequence type', specifying other text. Type of imaging pulse sequence used
Supplemental
Diffusion Tensor Imaging (DTI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12449
Polysomnography end tidal carbon dioxide measurement grade
Grade of the end-tidal CO2 (ETCO2) measurements being reported
Supplemental
Polysomnography
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18852
Respiratory oxygen administration method other text
The free-text field related to 'Respiratory oxygen administration method name' specifying other text. Name of method of administration of supplemental oxygen used
Supplemental
Respiratory Interventions
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00205
Family income range
Range, in U.S. dollars, of the annual pre-tax, pre-deduction total income, of the household of which the participant/subject is a member
Supplemental
Social Status
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12228
Tissue specimen name
Tissue specimen name collected from the participant/subject
Supplemental
Fat Aspirate Tissue Specimens
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12618
Age first suspected something different range
Age range of participant/subject when it was first suspected that something might be "different"
Supplemental
Medical History of SMA - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12801
Gene point mutation nonsense variant codon type
Type of nonsense variant or point mutation
Supplemental
Mutation Analysis
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C08244
Imaging slice thickness value
Value of the thickness of the slice measured in millimeters (mm)
Supplemental
Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12904
Echocardiogram left ventricular mass measurement
The left ventricular volume calculated as the difference between the epicardium delimited volume and the left ventricular chamber volume
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C21949
Pediatric Quality of Life Inventory (PedsQL) - Problem doctor hospital appointment school absent difficulty scale
Scale of problems with missing school to go to the doctor or hospital, as part of the Pediatric Quality of Life Inventory (PedsQL)
Supplemental
Pediatric Quality of Life Inventory (PEDSQL)
True
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12532
Gastrointestinal therapy feed tube first place date
Date on which the participant/subject's feeding tube was first placed
Supplemental
Gastrointestinal Therapies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12503
Imaging gray matter hyperintensity T2 fluid attenuated inversion recovery indicator
Indicator of whether there is grey matter hyperintensity on T2/FLAIR (fluid attenuated inversion recovery) images
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12758
Electrophysiology blood pressure response Valsalva phase IV result
The blood pressure response to valsalva maneuver during Phase IV
Supplemental
Electrophysiology
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12173
Dual X-ray absorptiometry scan anatomical site
Anatomic site on the body that was scanned for Dual X-ray absorptiometry (DEXA)
Supplemental
Dual-Energy X-Ray Absorptiometry (DEXA)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C10740
Echocardiogram left ventricle ejection fraction measurement
Fraction of blood pumped out of the left ventricles with each heart beat measured with echocardiography
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12457
Polysomnography transcutaneous carbon dioxide REM sleep value
Value, as a percent, of the selected transcutaneous CO2 (TcCO2) measurement during rapid eye movement (REM) sleep
Supplemental
Polysomnography
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12410
Pulmonary gas exchange fraction of inspired oxygen value
The fraction of inspired oxygen (FIO2) in the blood
Supplemental
Measures of Gas Exchange
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C10576
Imaging in plane resolution axis 1 measurement
Axis 1 of in-plane spatial resolution used in imaging acquisition
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12605
Caregiver primary type
Type of relationship that the person who serves as the participant/subject's primary caregiver has with the participant/subject
Supplemental
Social Status
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C05106
Surgical therapeutic procedure start date and time
Date (and time, if applicable and known) on which the surgical or therapeutic procedure started
Supplemental
Surgical and Hospitalization History - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12818
Gene second allele identical indicator
Whether allele #2 is identical to allele #1
Supplemental
Mutation Analysis
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12912
Echocardiogram pericardial effusion abnormal indicator
Whether there is pericardial effusion or abnormality observed by echocardiogram
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C21959
Pediatric Quality of Life Inventory (PedsQL) - Problem sleep trouble scale
Scale of problems with trouble sleeping, as part of the Pediatric Quality of Life Inventory (PedsQL)
Supplemental
Pediatric Quality of Life Inventory (PEDSQL)
True
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)