C00311
Birth weight report value
Birth weight according to the participant's/subject's medical report or reported by the parent or legal guardian
Supplemental
Prenatal and Perinatal History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C58677
Gender identity type
Gender identity self-identified by the subject/participant. Gender type may or may not match sex assigned at birth.
Core
General Core
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C58676
Birth sex assigned type
Self-reported phenotypic sex of participant/subject, assigned at birth.
Core
General Core
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C58651
Tissue specimen section count unknown indicator
Indicator that the count of tissue speciments is unknown.
Supplemental-Highly Recommended
Skin Biopsies for Qualification of Intraepidermal Nerve Fibers
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C58650
Tissue specimen section thickness not known indicator
Indicator that the tissue specimen thickness is not known.
Supplemental-Highly Recommended
Skin Biopsies for Qualification of Intraepidermal Nerve Fibers
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C58647
Breast bud formation not applicable indicator
Indicator that breast bud formation is/was not applicable to the subject/participant for whom data are being collected.
Supplemental
Intake Medical History
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)
C18736
Medication prior or concomitant dose unit of measure other text
The free-text field related to 'Medication prior or concomitant dose unit of measure' specifying other text. Dosage unit of measure of the prior or concomitant medication administered.
Supplemental
Prior and Concomitant Medications
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19849
Medical history ventilator setting type
Type of Ventilator settings
Supplemental
Interval Medical History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C20327
Biopsy autopsy excessive intracellular lipid status
The status related to excessive intracellular lipid storage pathology which involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E.
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19657
Family history birth year text
Free-text field to indicate the year of birth of the participant/subject's relative with the family history of a specific condition.
Supplemental
Family History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19659
Family history side type
Free-text field to indicate the side of the family in which the participant/subject has a family history of the listed conditions.
Supplemental
Family History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19663
Family history relationship type
Field where participant/subject can indicate which family member(s) has a history of the listed conditions.
Supplemental
Family History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C20322
Symptom neuromuscular presentation type
Symptoms of neuromuscular disease in participant/ subject at presentation
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19655
Family history CMD LGMD disorder indicator
Indicator for whether the participant/subject has a family history of CMD to LGMD spectrum disorder.
Supplemental
Family History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C20326
Biopsy autopsy excessive glycogen status
The status related to glycogen storage pathology which 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 Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19656
Family history living relative status
Status of life of the participant/subject's relative with the family history of a specific condition.
Supplemental
Family History
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
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)
C20325
Biopsy and autopsy inflammation description type
The descriptions as related to perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. At times, microorganisms can be identified and should be mentioned.
Supplemental
Muscle Biopsies and Autopsy Tissue
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)
C19892
Symptom presentation eye symptoms type
Eye symptoms participant/ subject shows at presentation
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19900
Laboratory findings autoantibody known text
Text of the known autoantibodies in patient
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19955
Immunohistochemistry dystrophin status
The status of dystrophin (BMD hotspot) in immunohistochemistry
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19915
Biopsy and autopsy non rimmed vacuoles estimated percentage value
Non-rimmed vacuoles estimated percentage value
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)
C19963
Immunohistochemistry beta dystroglycan status
The status of Beta dystroglycan in immunohistochemistry
Supplemental
Muscle Biopsies and Autopsy Tissue
False
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy (CMD)