C04504
ECG heart rhythm result type
Type of heart rhythm apparent on the electrocardiogram (EKG) being reported
Supplemental-Highly Recommended
Electrocardiogram (ECG)
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C11100
Pulmonary function test position type
Participant's/subject's position for the pulmonary function assessment
Supplemental-Highly Recommended
Pulmonary Function Testing
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C04512
ECG QTc interval
Interval in milliseconds (msec) as corrected for the period from the start of the Q wave to the end of the T wave (QTc interval) for the electrocardiogram (EKG) being reported
Supplemental-Highly Recommended
Electrocardiogram (ECG)
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12808
Gene sequenced with no variant or mutation indicator
Whether there are additional genes sequenced with no variants or mutations detected
Supplemental-Highly Recommended
Mutation Analysis
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C01707
Lab test abnormality significance type
Indicator as to whether or not the abnormal lab result for the associated test was considered clinically significant for the participant/subject
Supplemental-Highly Recommended
Laboratory Tests and Tracking
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C18833
Pulmonary function test not done other text
The free-text field related to 'Pulmonary function test not done reason' specifying other text. Reason the pulmonary function test was attempted but not completed
Supplemental-Highly Recommended
Pulmonary Function Testing
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12525
Biopsy and autopsy fiber abnormality type
Fiber type abnormalities on a muscle biopsy
Supplemental-Highly Recommended
Muscle Biopsy and Autopsy Tissue
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12785
Gene variant mutation detected result type
Type of gene variant or mutation detected
Supplemental-Highly Recommended
Mutation Analysis
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12315
Pulmonary function forced vital capacity leak indicator
Whether or not there was a leak during exhalation in any trial for forced vital capacity (FVC)
Supplemental-Highly Recommended
Pulmonary Function Testing
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C04505
ECG left ventricular hypertrophy status
Status of left ventricular hypertrophy on the electrocardiogram (EKG) being reported
Supplemental-Highly Recommended
Electrocardiogram (ECG)
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C11101
Pulmonary function test mouth apparatus type
Type of mouthpiece used for the pulmonary function test
Supplemental-Highly Recommended
Pulmonary Function Testing
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C04513
ECG ST segment abnormality status
Status of an abnormal interval between the end of the QRS complex and the beginning of the T wave (ST segment) appears abnormal on the electrocardiogram (EKG) being reported
Supplemental-Highly Recommended
Electrocardiogram (ECG)
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12526
Biopsy and autopsy type 1 predominance fiber percentage value
Percentage of Type 1 predominance fiber present
Supplemental-Highly Recommended
Muscle Biopsy and Autopsy Tissue
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12316
Pulmonary function forced vital capacity large value range indicator
Whether the two largest values of forced vital capacity (FVC) are within 10% of each other
Supplemental-Highly Recommended
Pulmonary Function Testing
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C04506
ECG right ventricular hypertrophy status
Status of right ventricular hypertrophy on the electrocardiogram (EKG) being reported
Supplemental-Highly Recommended
Electrocardiogram (ECG)
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12298
Pulmonary function test not done reason
Reason the pulmonary function test was attempted but not completed
Supplemental-Highly Recommended
Pulmonary Function Testing
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C04514
ECG T wave abnormality indicator
Indicator whether the T wave appears abnormal on the electrocardiogram (EKG) being reported
Supplemental-Highly Recommended
Electrocardiogram (ECG)
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12944
Variant mutational analysis performed indicator
Whether the variant or mutational analysis was performed on the participant/subject
Supplemental-Highly Recommended
Mutation Analysis
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12287
Tissue specimen section count
Count of the number of sections from the tissue specimen that were taken and evaluated
Supplemental-Highly Recommended
Skin Biopsies for Qualification of Intraepidermal Nerve Fibers
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C18873
Gene mutation detected digenic result specify
The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected
Supplemental-Highly Recommended
Mutation Analysis
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C01709
Lab test result status
Status of the laboratory test result, usually based upon the comparison of the test result to the normal range for the lab test performed
Supplemental-Highly Recommended
Laboratory Tests and Tracking
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12527
Biopsy and autopsy type 2 predominance fiber percentage value
Percentage of Type 2 predominance fiber present
Supplemental-Highly Recommended
Muscle Biopsy and Autopsy Tissue
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C18731
Lab test other text
The free-text field related to 'Lab test name' specifying other text. Name representing the lab test performed on body fluid(s) and tissues. Test names are typically comprised of the analyte name, properties (%, Ratio, etc.), the type of body fluid tested and any special instructions
Supplemental-Highly Recommended
Laboratory Tests and Tracking
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C01701
Lab specimen collection date and time
Date (and time if applicable and known) when the specimen was collected
Supplemental-Highly Recommended
Laboratory Tests and Tracking
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)
C12317
Pulmonary function forced vital capacity early termination indicator
Whether or not there was early termination with a steep cutoff during the trials for forced vital capacity (FVC)
Supplemental-Highly Recommended
Pulmonary Function Testing
False
Neuromuscular Diseases
Neuromuscular Diseases (NMD)