C12191
Dual X-ray absorptiometry whole body bone mineral content value
The amount of bone mineral content (BMC) for dual X-ray absorptiometry (DEXA)
Supplemental
Dual-Energy X-Ray Absorptiometry (DEXA)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12870
Echocardiogram pulmonic stenosis degree status
Assessment with echocardiography of whether there is stenosis of the pulmonary valve of the heart
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12198
Gastrointestinal therapy received indicator
Indicator of whether the participant/subject is currently receiving any gastrointestinal (GI) therapies
Supplemental
Gastrointestinal Therapies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12480
Imaging cortex-pachygyria thickness measurement
The measurement of cortex thickness, in , of the cortex
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C15572
Imaging diffusion direction count
Count of diffusion directions in the associated diffusion imaging study
Supplemental
Diffusion Tensor Imaging (DTI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12434
Polysomnography apnea hypopnea index type non-REM event count
Count of non-rapid eye movement (REM) sleep events recorded for the type of Apnea-Hypopnea Index (AHI) being reported
Supplemental
Polysomnography
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18837
Respiratory manual cough assist use other text
The free-text field related to 'Respiratory manual cough assist use frequency' specifying other text. Frequency of use of the manual cough assist method (e.g. Heimlich style maneuver)
Supplemental
Respiratory Interventions
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00021
Ethnicity USA paternal category
Ethnicity the participant/subject's father most closely identifies with
Supplemental
Demographics
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12243
Microscopy epon embedded tissue abnormality type
Type of microscopy employed to view abnormalities in epon-embedded tissue specimen
Supplemental
Peripheral Nerves - Biopsies and Autopsies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C21668
ICD-10-CM code
Code from the International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) for the selected surgical procedure
Supplemental
Surgical and Hospitalization History - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18859
Imaging cerebellum abnormality other text
The free-text field related to 'Imaging cerebellum abnormality type' specifying other text. The type of abnormality in the cerebellum on the image
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12686
Orthosis type use indicator
Indicator whether the participant/subject currently uses the selected types of orthosis
Supplemental
External Devices - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12513
Dual X-ray absorptiometry distal forearm raw score
The score for the dual X-ray absorptiometry (DEXA) of the distal forearm
Supplemental
Dual-Energy X-Ray Absorptiometry (DEXA)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12889
Echocardiogram right ventricle fraction shorten measurement
Measurement of the difference between end-diastolic and end-systolic dimensions of the right ventricle divided by end-diastolic dimension assessed with echocardiography. FS or Fractional Shortening in percentage = EDD minus ESD divided by EDD times 100, where EDD = RV End Diastolic Dimension and ESD = RV End Systolic Dimension
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12207
Gastrointestinal therapy take nutrition supplement indicator
Indicator whether the participant/subject is taking nutritional supplements
Supplemental
Gastrointestinal Therapies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12488
Imaging subcortical cyst indicator
Indicator of whether subcortical cysts are found in the image studies
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18610
Imaging in plane resolution axis 2 measurement
Axis 2 of in-plane spatial resolution used in imaging acquisition
Supplemental
Diffusion Tensor Imaging (DTI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12442
Polysomnography percent sleep time non-REM percent blood oxygen saturation value
Value representing the amount of non-rapid eye movement (REM) sleep, as a percentage of total sleep time, in which blood oxygen saturation (SpO2) approached the selected level
Supplemental
Polysomnography
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C18845
Respiratory intrapulmonary percussive ventilation cup liquid other text
The free-text field related to 'Respiratory intrapulmonary percussive ventilation cup liquid type' specifying other text. Type of liquid in the intrapulmonary percussive ventilation cup
Supplemental
Respiratory Interventions
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C11138
Country of origin paternal ISO code
The ISO 3166-1 alpha-2 code for the participant's father's country of origin
Supplemental
Demographics
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 Spectroscopy (MRS)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00721
Family history medical condition indicator
Indicator of whether a family member or first and second degree blood relatives of the participant/subject has had a history of the particular medical condition or health related event
Supplemental
Family History - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12793
Gene exon predicted reading frame type
Type of predicted reading frame
Supplemental
Mutation Analysis
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C02498
Imaging scanner software version number
Version number of the imaging scanner software
Supplemental
Magnetic Resonance Imaging (MRI)
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12897
Echocardiogram right ventricle end diastolic volume measurement
Imaged right ventricular blood pool capacity within the endocardial surface in a gated scan during the time of diastole
Supplemental
Echocardiogram
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)