C19888
Age biopsy year value
Age (in years) of participant/subject at biopsy
Supplemental
Muscle Biopsies and Autopsy Tissue
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)
C00008
Age value
Value for participant/subject's age, calculated as elapsed time since the birth of the participant/subject
Supplemental
Short Scalp Electroencephalography (EEG)
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C00008
Age value
Value for participant/subject's age, calculated as elapsed time since the birth of the participant/subject
Supplemental
Brain Magnetic Resonance Imaging (MRI)
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C00724
APGAR five minute score
Score of a newborn recorded at five minutes from the time of birth and expressed as a number quantifying the overall physical condition, which includes heart rate, muscle tone, respiratory effort, color, and reflex responsiveness
Supplemental
Prenatal and Perinatal History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12604
APGAR one minute score
Score of a newborn recorded at one minute from the time of birth and expressed as a number quantifying the overall physical condition, which includes heart rate, muscle tone, respiratory effort, color, and reflex responsiveness
Supplemental
Prenatal and Perinatal History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C00723
APGAR ten minute score
Score of a newborn recorded at ten minutes from the time of birth and expressed as a number quantifying the overall physical condition, which includes heart rate, muscle tone, respiratory effort, color, and reflex responsiveness
Supplemental
Prenatal and Perinatal History
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)
C19908
Atrophy hypotrophy presence status
The status as related to presence of atrophy/hypotrophy fibers
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19906
Basophilic fibers presence status
Presence of basophilic fibers
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19829
Behavioral issues indicator
Indicator of behavioral issues
Supplemental
Intake Medical History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19830
Behavioral issues onset date
Date of onset of behavioral issues
Supplemental
Intake Medical History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12241
Biochemical or genetic test name
Name of the biochemical or genetic test as performed on the specimen
Supplemental
Peripheral Nerves - Biopsies and Autopsies
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12241
Biochemical or genetic test name
Name of the biochemical or genetic test as performed on the specimen
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12240
Biochemical or genetic test performed indicator
Indicator of whether subsequent biochemical or genetic testing was performed
Supplemental
Peripheral Nerves - Biopsies and Autopsies
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12240
Biochemical or genetic test performed indicator
Indicator of whether subsequent biochemical or genetic testing was performed
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12242
Biochemical or genetic test result value
Results of the biochemical or genetic test performed on the specimen
Supplemental
Peripheral Nerves - Biopsies and Autopsies
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12242
Biochemical or genetic test result value
Results of the biochemical or genetic test performed on the specimen
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C17905
Biopsy and autopsy abnormal storage material text
Text describing biopsy or autopsy material that has been stored abnormally
Supplemental
Peripheral Nerves - Biopsies and Autopsies
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C17905
Biopsy and autopsy abnormal storage material text
Text describing biopsy or autopsy material that has been stored abnormally
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C12263
Biopsy and autopsy abnormal storage material type
Excesses of material can be detected in some lipid and glycogen storage diseases, which may be evident on Oil Red O and PAS stains, respectively
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19946
Biopsy and autopsy abnormal structure text
Specify abnormal structure
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C17903
Biopsy and autopsy abnormalities on immunohistochemistry text
Text regarding abnormalities on immunohistochemistry
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19996
Biopsy and autopsy additional immunohistochemical assays performed text
Specify any additional immunohistochemical/immunoflourescence assays performed
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19949
Biopsy and autopsy additional observation text
The free-text field for recording additional observations about the biopsy or autopsy being performed
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)