C18828
Histochemical stains used other text
The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen
Supplemental-Highly Recommended
Peripheral Nerves - Biopsies and Autopsies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00015
Education year count
Number of years of education completed (age 5 and beyond)
Supplemental-Highly Recommended
General Core
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12236
Biopsy amyloid present on Congo red stain indicator
Indicator of whether there was biopsy amyloid present on the Congo Red stain
Supplemental-Highly Recommended
Fat Aspirate Tissue Specimens
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12226
Specimen source type
Type of specimen collection source
Supplemental-Highly Recommended
Peripheral Nerves - Biopsies and Autopsies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12235
Histochemical stains used type
Type of standard histochemical stains used on the tissue specimen
Supplemental-Highly Recommended
Peripheral Nerves - Biopsies and Autopsies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18813
Imaging lesion found other text
The free-text field related to 'Imaging lesion found type' specifying other text. Type of lesions found within the imaging study
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12673
Position device use indicator
Indicator of whether the participant/subject uses any positioning devices
Supplemental
External Devices - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12193
Dual X-ray absorptiometry appendicular lean soft tissue value
The amount of appendicular lean soft tissue (ALST) mass for dual X-ray absorptiometry (DEXA)
Supplemental
Dual-Energy X-Ray Absorptiometry (DEXA)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12872
Echocardiogram mitral stenosis degree status
Assessment with echocardiography of whether there is stenosis of the mitral valve of the heart
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12200
Gastrointestinal therapy feed tube type
Type of tube through which the participant/subject receives therapeutic tube feedings
Supplemental
Gastrointestinal Therapies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12482
Imaging cortex lissencephaly (LIS type 1) thickness measurement
The measurement of cortex thickness, in , of the lissencephaly (LIS type 1) site
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C17794
Imaging diffusion second b value
Value, in square millimeters per second, of the second b-value used in diffusion acquisition
Supplemental
Diffusion Tensor Imaging (DTI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12436
Polysomnography blood oxygen saturation mean REM sleep measurement
Measurement, in percent, of the mean blood oxygen saturation (Sp02) during rapid eye movement (REM) sleep from the polysomnography being reported
Supplemental
Polysomnography
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18839
Respiratory postural drainage use other text
The free-text field related to 'Respiratory postural drainage use frequency' specifying other text. Frequency of postural drainage use
Supplemental
Respiratory Interventions
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C04800
Death cause text
Text describing the primary reason or cause of the participant/subject's death. If possible, this should be the explanation of the cessation of life according to the Death Certificate
Supplemental
Death Report
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C02495
Imaging scanner strength value
Value, in Tesla (T), of the scanner's magnetic field strength used for the scan being reported
Supplemental
Magnetic Resonance Spectroscopy (MRS)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12688
Orthosis knee ankle foot orthosis ischial weight bearing indicator
Indicator whether any knee-ankle-foot orthosis (KAFO) currently used by the participant/subject is ischial weight bearing
Supplemental
External Devices - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12787
Gene variant or mutation category
Category of the variant or mutation detected on the gene
Supplemental
Mutation Analysis
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12515
Dual X-ray absorptiometry distal forearm Z score
The Z score the for dual X-ray absorptiometry (DEXA) of the distal forearm
Supplemental
Dual-Energy X-Ray Absorptiometry (DEXA)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12891
Echocardiogram right ventricle function status
The ability of the right ventricle to perform its regular functions normally
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12209
Gastrointestinal therapy feed schedule table number
Number of the table used to describe the participant/subject's feeding schedule
Supplemental
Gastrointestinal Therapies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12490
Imaging ventricle abnormal indicator
Indicator of whether the ventricles appear normal or abnormal in the image studies
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18656
Imaging diffusion fifth b value
Value, in square millimeters per second, of the fifth b-value used in diffusion acquisition
Supplemental
Diffusion Tensor Imaging (DTI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12444
Polysomnography blood oxygen saturation drop hour total sleep count
Count per hour of sleep of drops of 3% or more from baseline blood oxygen saturation (SpO2) during total sleep time
Supplemental
Polysomnography
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18847
Respiratory support device other text
the free-text field related to 'Respiratory support device type' specifying other text. Type of respiratory support or assisted ventilation device used
Supplemental
Respiratory Interventions
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)