C08527
36-item Short Form Health Survey (SF-36) - Times energy score
Score of times having a lot of energy during the past 4 weeks as part of version 1.0 of 36-item Short Form Health Survey (SF-36)
Supplemental
Short Form 36-Item Health Survey (SF-36)
True
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12481
Imaging cortex lissencephaly (LIS type 1) indicator
Indicator of whether cortex lissencephaly is found within the image studies
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12685
Wheelchair use frequency
Frequency with which the participant/subject uses their wheelchair, if applicable
Supplemental
External Devices - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12451
Polysomnography end tidal carbon dioxide REM sleep value
Value, as a percent, of the selected end-tidal CO2 (ETCO2) measurement during rapid eye movement (REM) sleep
Supplemental
Polysomnography
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C10593
Imaging fat signal suppressed indicator
Indicator as to whether or not fat signal was suppressed in imaging acquisition
Supplemental
Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C17983
Caesarean delivery timing type
Type of timing conditions under which Caesarean delivery was decided upon
Supplemental
Prenatal and Perinatal History - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00207
Marital or partner status
Status of participant/subject's current domestic relationship, whether marital or partnered
Supplemental
Social Status
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12911
Echocardiogram systolic pressure estimation type
Technique used to estimate the right ventricular systolic pressure
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C21960
Pediatric Quality of Life Inventory (PedsQL) - Problem sport activity exercise participation difficulty scale
Scale of problems with participating in sports activity or exercise, 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)
C10751
Echocardiogram tissue doppler mitral annulus E' velocity measurement
Tissue doppler mitral annulus E' velocity measured with echocardiography
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C08239
Imaging echo duration
Duration between the application of the 90 degree pulse and the peak of the echo signal, in milliseconds, during the spin echo and inversion recovery pulse sequences in imaging acquisition
Supplemental
Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C10729
Echocardiogram left atrial antero - posterior dimension measurement
Measurements of the dimensions of the left atrial antero - posterior measured by the echocardiogram
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18860
Imaging gray matter hyperintensity T2 fluid attenuated inversion recovery other text
The free-text field related to 'Imaging gray matter hyperintensity T2 fluid attenuated inversion recovery site' specifying other text. The type of anatomical site of the 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)
C18718
Imaging scanner strength other text
The free-text field related to 'Imaging scanner strength value' specifying other text. Value, in Tesla (T), of the scanner's magnetic field strength used for the scan being reported
Supplemental
Diffusion Tensor Imaging (DTI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18716
Imaging scanner manufacturer other text
The free-text field related to 'Imaging scanner manufacturer name' specifying other text. Name of manufacturer of imaging scanner
Supplemental
Magnetic Resonance Spectroscopy (MRS)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12733
Needle electromyography motor unit action potential complexity percent value
The complexity of the motor unit action potential measured during needle electromyography
Supplemental
Electrophysiology
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12859
Cardiac MRI other cardiac anatomy structure result
Result of evaluation of the structure of the selected other cardiac anatomy as observed on the cardiac MRI
Supplemental
Cardiac Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C08535
36-item Short Form Health Survey (SF-36) - Expect worse health score
Score of how true or false surveyee perceived the statement: I expect my health to get worse, as part of version 1.0 of 36-item Short Form Health Survey (SF-36)
Supplemental
Short Form 36-Item Health Survey (SF-36)
True
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12489
Imaging subcortical cysts site type
The anatomical site(s) of the subcortical cysts
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00720
Family history medical condition type
Type of medical condition or health related event for which the family history is taken
Supplemental
Family History - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12459
Polysomnography transcutaneous carbon dioxide awake value
Value, as a percent, of the selected transcutaneous CO2 (TcCO2) measurement during wakefulness
Supplemental
Polysomnography
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C10938
Imaging STEAM mixing duration
Duration, in ms, of the STEAM mixing time (TM) as a spectroscopic sequence parameter in the scan being reported
Supplemental
Magnetic Resonance Spectroscopy (MRS)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12234
Preservation technique used amount value
Value of the amount of preservation solution or material used to preserve the specimen
Supplemental
Peripheral Nerves - Biopsies and Autopsies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C10783
Electrophysiology motor unit number estimation compound muscle action potential measurement
Measurement in millivolts (mV) of the compound muscle action potential (CMAP) amplitude for the muscle on which MUNE (motor unit number estimation) is performed
Supplemental
Electrophysiology
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12508
Imaging radio frequency coil function type
The function of the radio frequency (RF) coil used
Supplemental
Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)