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CDE Detailed Report
This report contains detailed information about the selected CDEs.
Note: If at least one CDE was selected from a copyright- or trademark-protected instrument/scale then all of the CDEs from that instrument/scale are included in this report.
Disease: Myotonic Muscular Dystrophy
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsy and Autopsy Tissue
Item count: 68 (68 distinct CDEs)
CDE ID
CDE Name
Variable Name
Definition / Description
Question Text
Permissible Value
Description
Data Type
Instructions
References
Population
Classification (e.g., Core)
Version #
Version Date
Aliases for Variable Name
CRF Module / Guideline
© or TM
Sub-Domain
Domain
Previous Title
Size
Input Restrictions
Min Value
Max Value
Measurement Type
LOINC ID
SNOMED
caDSR ID
CDISC ID
C12245
Symptom presentation type
SymptmPresentTyp
Symptoms participant/ subject shows at presentation
Symptoms at presentation
Weakness;Hypotonia (floppiness);Muscle pain;Cardiac disease;Central nervous system disease;Unknown;
Weakness;Hypotonia (floppiness);Muscle pain;Cardiac disease;Central nervous system disease;Unknown;
Alphanumeric
Check all that apply.
No references available
Adult;Pediatric
Supplemental
3.1
5/12/2017
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Symptoms at presentation type
 
Multiple Pre-Defined Values Selected
       
C12226
Specimen source type
SpecmnSourcTyp
Type of specimen collection source
Is this a biopsy or autopsy specimen?
Biopsy;Autopsy;
Biopsy;Autopsy;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Core
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Specimen source type
 
Single Pre-Defined Value Selected
       
C17898
Laboratory director unknown indicator
LabDirectorUnknownInd
Indicator of unknown laboratory director
Name of laboratory director
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C17899
Preservation technique not used indicator
PreservTechNotUseInd
Indicates preservation technique used is not known
Freezing or Fixation Used?
Yes;No:Unknown;
Yes;No:Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C12227
Postmortem interval for autopsy specimen value
PstmrtmIntrvlApSpecmnVal
Interval in hours of time elapsed between death and the autopsy at which the tissue specimen was collected
If this is an autopsy specimen what is the approximate postmortem interval?
  
Numeric Values
Only answered if "Autopsy" is answered for "Is this a biopsy or autopsy specimen?"
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Postmortem interval for autopsy specimen value
 
Free-Form Entry
  
hour
    
C12517
Fatty replacement severity status
FttyReplcmntSeverStat
Severity of the Fatty replacement muscle diagnostic abnormalities
Fatty replacement
Mild;Moderate;Severe;
Mild;Moderate;Severe;
Alphanumeric
No instructions available
No references available
Adult
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Fatty replacement severity indicator
 
Single Pre-Defined Value Selected
       
C12518
Endomysial fibrosis severity status
EndomysFibroSeverStat
Severity of the Endomysial fibrosis muscle diagnostic abnormalities
Endomysial fibrosis
Mild;Moderate;Severe;
Mild;Moderate;Severe;
Alphanumeric
No instructions available
No references available
Adult
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Endomysial fibrosis severity indicator
 
Single Pre-Defined Value Selected
       
C12519
Myofiber degeneration severity status
MyofibDegenSeverStat
Severity of the Myofiber degeneration muscle diagnostic abnormalities
Myofiber degeneration
Mild;Moderate;Severe;
Mild;Moderate;Severe;
Alphanumeric
No instructions available
No references available
Adult
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Myofiber degeneration severity indicator
 
Single Pre-Defined Value Selected
       
C12228
Tissue specimen name
TissSpecmnName
Tissue specimen name collected from the participant/subject
Tissue collected
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Tissue specimen type
255
Free-Form Entry
       
C12520
Specimen type 1 fiber muscle biopsy percent result number
SpecTyp1FibMuscBpPctResltNum
Result for type 1 fiber muscle biopsy percent
   
Numeric Values
Only record Type 1 fiber percentage if Type 1 predominance is completed
No references available
Adult
Supplemental
3.0
7/25/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Type 1 fiber muscle biopsy percent result
 
Free-Form Entry
       
C12521
Specimen type 2 fiber muscle biopsy percent result number
SpecTyp2FibMuscBiopPctResltNum
Result for type 2 fiber muscle biopsy percent
   
Numeric Values
Only record Type 2 fiber percentage if Type 2 predominance is completed
No references available
Adult
Supplemental
3.0
7/25/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Type 2 fiber percent, muscle biopsy percent result
 
Free-Form Entry
       
C17900
Age presentation year value
AgePresentYearVal
Age (in years) of participant/subject at presentation
Age at presentation
  
Numeric Values
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
C17901
Elevated creatine kinase Indicator
ElevatCreatinKinasInd
Indicator of whether participant/subject experienced elevated creatine kinase levels
Elevated creatine kinase
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C12229
Tissue specimen size measurement
TissSpecmnSizeMeasr
Measurement of the size of the tissue specimen collected
Size of tissue collected
  
Numeric Values
This information may not be available for autopsy tissue.
No references available
Adult;Pediatric
Core
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Tissue specimen measurement
 
Free-Form Entry
  
centimeter
    
C12230
Tissue specimen collection date and time
TissSpecmnCollctnDateTime
Date (and time if applicable and known) when the tissue specimen was collected
Date of tissue collection
  
Date or Date & Time
Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete date plus hours and minutes, etc.).
No references available
Adult;Pediatric
Core
3.0
7/25/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Tissue specimen collection date and time
 
Free-Form Entry
       
C12247
Biopsy and Autopsy tissue collection method type
BpApTissCollMethdTyp
The type of method used for collection of the tissue specimen
Biopsy method
Punch biopsy;Blister biopsy;Open biopsy;Open;Needle;
Punch biopsy;Blister biopsy;Open biopsy;Open;Needle;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Biopsy and Autopsy tissue collection method type
 
Single Pre-Defined Value Selected
       
C17902
Elevated creatine kinase value
ElevatCreatinKinasVal
The elevated creatine kinase value.
Elevated creatine kinase
  
Numeric Values
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
C17903
Biopsy and autopsy abnormalities on immunohistochemistry text
BpApAbnrmlImmhistchmclTxt
Text regarding abnormalities on immunohistochemistry
Other abnormalities noted on immunohistochemistry
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
C12231
Laboratory name
LabName
Name of laboratory where assessment was performed
Name of laboratory where pathology was performed
  
Alphanumeric
Record the laboratory name where pathology was performed
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Laboratory name
255
Free-Form Entry
       
C12232
Laboratory director name
LabDirectorName
Name of laboratory director where assessment was performed
Name of laboratory director
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Laboratory director name
255
Free-Form Entry
       
C12248
Pathologist name
PathologistName
Name of pathologist who diagnosed the case
Name of pathologist who diagnosed the case
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Pathologist name
255
Free-Form Entry
       
C12233
Preservation technique used type
PresrvtnTechnqUseTyp
Type of preservation technique used to preserve the specimen
Freezing or Fixation Used?
Frozen;Formalin-fixed;Paraffin-embedded;Epon-embedded;
Frozen;Formalin-fixed;Paraffin-embedded;Epon-embedded;
Alphanumeric
Supplemental - Highly Recommended
No references available
Adult;Pediatric
Supplemental–Highly Recommended
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Preservation technique used type
 
Single Pre-Defined Value Selected
       
C12234
Preservation technique used amount value
PresrvtnTechnqUseAmntVal
Value of the amount of preservation solution or material used to preserve the specimen
Amount
  
Alphanumeric
Answer for the freezing or fixation technique used. Answer should be recorded in milligrams (mg). If amount used is not known, select Not known.
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Preservation technique used amount value
255
Free-Form Entry
  
milligram
    
C12524
Inflammation severity status
InflamSeverStat
Severity of Inflammation muscle diagnostic abnormalities
Inflammation
Mild;Moderate;Severe;
Mild;Moderate;Severe;
Alphanumeric
No instructions available
No references available
Adult
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Inflammation severity indicator
 
Single Pre-Defined Value Selected
       
C12239
Electron microscopy performed indicator
ElectrnMicroPerfInd
Indicator of whether electron microscopy was performed
Was electron microscopy performed?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Electron microscopy performed indicator
 
Single Pre-Defined Value Selected
       
C12240
Biochemical or genetic test performed indicator
BiochemGenTestPerfInd
Indicator of whether subsequent biochemical or genetic testing was performed
Was subsequent biochemical or genetic testing performed?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Muscle Biopsy and Autopsy Tissue
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Biochemical or genetic test performed indicator
 
Single Pre-Defined Value Selected
       
12-10-2018
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