C20324
Biopsy and autopsy nemaline rod status
The status as related to rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C10785
Electrophysiology motor unit number estimation value
Value of the motor unit number estimate (MUNE), derived by dividing compound muscle action potential (CMAP) amplitude by single motor unit potential (SMUP) amplitude
Supplemental
Electrophysiology
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C02025
Medication prior or concomitant RXNorm code
Code for name of the prior/concomitant agent or drug administered.
Supplemental
Prior and Concomitant Medications
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C17396
Sex genotype type
The difference between male and female, based upon the interactions between genes and between the genotype and the environment. Genotype is identified based on the individual's reproductive organs and functions assigned by chromosomal complement.
Supplemental
Demographics
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12376
Respiratory positive pressure initiation age value
Value of the age of the participant/subject at the time of his or her initiation for using the non-invasive, positive pressure device.
Supplemental
Respiratory Interventions
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12498
Imaging white matter T2 abnormal indicator
Indicator of whether the white matter appears normal or abnormal on T2 weighted images
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12335
Respiratory postural drainage use frequency
Frequency of postural drainage use
Supplemental
Respiratory Interventions
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12291
Tissue specimen counting threshold type
Type of threshold for counting in the tissue specimen
Supplemental
Skin Biopsies for Qualification of Intraepidermal Nerve Fibers
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C17900
Age presentation year value
Age (in years) of participant/subject at presentation
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19792
Medical history cardiovascular heart arrhythmia indicator
Indicator of history of heart arrhythmia
Supplemental
Intake Medical History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12231
Laboratory name
Name of laboratory where assessment was performed
Supplemental
Peripheral Nerves - Biopsies and Autopsies
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12701
Electrophysiology motor nerve F-wave minimum latency value
The length of time needed for the impulse to travel from the site, to the spine, and back to the site measured during the motor nerve conduction study
Supplemental
Electrophysiology
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C10975
Manual muscle testing anatomic site
The anatomic site of the muscle assessed during the performance of the manual muscle testing.
Supplemental
Manual Muscle Testing-Using the Medical Research Council Muscle Grading Scale
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19968
Immunohistochemistry dysferlin status
The status of dysferlin in immunohistochemistry
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19880
Medical history upper respiratory infection frequency
Frequency of upper respiratory infection
Supplemental
Interval Medical History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C01581
Weight unit of measure
Unit of measure for the weight numerical value
Supplemental
Prenatal and Perinatal History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19928
Biopsy and autopsy moth eaten fibers status
Moth-eaten fibers status in biopsy/autopsy
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19840
Medical history medication change since last visit indicator
Indicator of medication changes since last study visit
Supplemental
Interval Medical History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C10931
Imaging quality of images technically satisfactory indicator
Indicator of whether the quality of the images were technically satisfactory.
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12752
Electrophysiology heart rate variability value
The heart rate variability with deep breathing measured during autonomic function testing
Supplemental
Electrophysiology
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12409
Pulmonary gas exchange measurement type
The type of gas exchange measurement used on participant/subject
Supplemental
Measures of Gas Exchange
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12708
Electrophysiology H-reflex latency right value
The H-reflex duration of latency for the right side of the body
Supplemental
Electrophysiology
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12392
Respiratory inspiratory positive airway pressure positive inspiratory pressure value
Value of the inspiratory positive airway pressure or positive inspiratory pressure.
Supplemental
Respiratory Interventions
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19976
Immunohistochemistry CD3 percentage value
Percent value of CD3
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19500
Assessment performed date
The date of assessment of the examination being performed.
Supplemental
Goniometry
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)