C12276
Biopsy and autopsy mitochondria abnormality type
Type of mitochondria abnormality in muscle biopsy
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12254
Biopsy and autopsy myopathy-associated pathological structures type
The type of myopathy-associated pathological structures seen in the histology of the biopsy or autopsy specimen
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12257
Biopsy and autopsy nemaline rod type
Rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12528
Biopsy and autopsy nemaline rods restricted to one fiber text
Nemaline rods restricted to one fiber text
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12273
Biopsy and autopsy normal immunoreactivity assay name
Name of the normal immunoreactivity assay used
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C17904
Biopsy and autopsy pathological inclusions text
Text describing pathological inclusions (if any)
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12260
Biopsy and autopsy perivascular inflammation type
Evidence of vascular damage includes damaged vessels in association with perivascular inflammation and the presence of fibrin thrombi located within vascular spaces
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12529
Biopsy and autopsy ragged red fibers estimated count
Ragged red fibers estimated number
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12274
Biopsy and autopsy reduced immunoreactivity assay name
Reduced immunoreactivity that were noted on the immunohistochemical stains
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12247
Biopsy and Autopsy tissue collection method type
The type of method used for collection of the tissue specimen
Supplemental
Skin Biopsies for Qualification of Intraepidermal Nerve Fibers
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12247
Biopsy and Autopsy tissue collection method type
The type of method used for collection of the tissue specimen
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12526
Biopsy and autopsy type 1 predominance fiber percentage value
Percentage of Type 1 predominance fiber present
Core
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12527
Biopsy and autopsy type 2 predominance fiber percentage value
Percentage of Type 2 predominance fiber present
Core
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12530
Biopsy autopsy COX-negative fibers estimated count
COX-negative fibers estimated number
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12531
Biopsy autopsy excessive glycogen severity result
Severe glycogen storage pathology involves excess PAS+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild glycogen storage pathology is difficult to determine at the light microscopic level and may only be evident on PAS stain or electron microscopy
Supplemental
Muscle Biopsy and Autopsy Tissue
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C12277
Biospecimen fragment collect count
Count of fragments collected in the tissue specimen
Core
Peripheral Nerves - Biopsies and Autopsies
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00007
Birth date
Date (and time, if applicable and known) the participant/subject was born
Core
General Core
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00007
Birth date
Date (and time, if applicable and known) the participant/subject was born
Core
Demographics
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C58676
Birth sex assigned type
Self-reported phenotypic sex of participant/subject, assigned at birth
Core
General Core
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C01507
Blood pressure diastolic measurement
Measurement of pressure of the participant's/subject's blood against the artery walls during diastole (the relaxation phase) in millimeters of mercury (mmHg)
Supplemental
Vital Signs
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C01553
Blood pressure measurement position type
Indicator of the participant/subject's position during the blood pressure measurement
Supplemental
Vital Signs
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C01565
Blood pressure systolic measurement
Measurement of pressure of the participant's/subject's blood against the artery walls during systole (the contraction phase) in millimeters of mercury (mmHg)
Supplemental
Vital Signs
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C11131
Body mass index value
Value of the participant/subject's body mass index, calculated from height and weight
Core
Vital Signs
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00312
Body system category
Category or grouping used in the comprehensive assessment of a participant/subject, which includes a subjective history taking component as well as an objective based structured interview and physical examination of all the body systems
Supplemental
Physical Examination
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
C00312
Body system category
Category or grouping used in the comprehensive assessment of a participant/subject, which includes a subjective history taking component as well as an objective based structured interview and physical examination of all the body systems
Supplemental
Medical History - SMA
False
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)