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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: Friedreich's Ataxia
Sub-Domain: History of Disease/Injury Event
CRF: Medical History of Friedreich's Ataxia
Item count: 31 (31 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
C10500
Symptom onset age value
SymptomOnsetAgeVal
Age when symptoms first experienced
Age at Symptom Onset
  
Numeric Values
Answer should be recorded in years. History can be obtained from participant/ subject, family member, friend, or chart/ medical record.
No references available
Adult;Pediatric
Core
3.0
7/25/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Symptom onset age value
 
Free-Form Entry
       
C10501
Diagnosis initial age value
DiagnosAgeVal
Age of the participant/subject when initially diagnosed with disease/disorder
Age of Diagnosis
  
Numeric Values
Answer should be recorded in years. History can be obtained from participant/ subject, family member, friend, or chart/ medical record.
No references available
Adult;Pediatric
Core
3.0
7/24/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Diagnosis age value
 
Free-Form Entry
  
year
    
C10502
Symptom first experienced text
SymptmFirstExpTxt
First symptom of the disease/disorder experienced by the participant/subject
First symptom experienced by the patient
Scoliosis;Cardiomyopathy;Diabetes;Instability;Falls;Other, specify;
Scoliosis;Cardiomyopathy;Diabetes;Instability;Falls;Other, specify;
Alphanumeric
History can be obtained from participant/ subject, family member, friend, or chart/ medical record.
No references available
Adult;Pediatric
Core
3.0
7/24/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Symptom first experienced type
 
Single Pre-Defined Value Selected
       
C18802
Symptom first experienced other text
SymptmFirstExpOTH
The free-text field related to 'Symptom first experienced text' specifying other text. First symptom of the disease/disorder experienced by the participant/subject
Other, specify
  
Alphanumeric
History can be obtained from participant/ subject, family member, friend, or chart/ medical record.
No references available
Adult;Pediatric
Core
3.0
7/24/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
 
4000
Free-Form Entry
       
C10503
Neonatal problems indicator
NeonatProblemInd
Whether the participant/subject has a history of problems as an infant during the first month after birth
Problems during neonatal period?
Yes, specify;No;
Yes;No;
Alphanumeric
When asking participant/ subject use the following: Has a doctor or other medical professional ever told you that you have/ have had a(n)________? History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record.
No references available
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Problems during neonatal period indicator
 
Single Pre-Defined Value Selected
       
C18618
Neonatal problem other text
NeonatalProblemOtherText
Specify in text the problems other than those listed that occurred during the neonatal period
Yes, specify
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
10/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
 
255
Free-Form Entry
       
C10504
Impaired physical ability during infancy indicator
ImpPhysAbilDurngInfInd
Whether the participant/subject has a history of impaired physical abilities during infancy
Impaired physical abilities during infancy?
Yes;No;
Yes;No;
Alphanumeric
When asking participant/subject use the following: Has a doctor or other medical professional ever told you that you have/ have had a(n)________? History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record.
No references available
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Impaired physical ability during infancy indicator
 
Single Pre-Defined Value Selected
       
C10505
Delayed motor milestones indicator
DelayMotorMIlstnInd
Whether the participant/subject has a history of delayed motor milestones. If participant had delayed motor milestones, indicate type of delayed motor milestones
Delayed motor milestones?
Yes, specify;No;
Yes;No;
Alphanumeric
When asking participant/ subject use the following: Has a doctor or other medical professional ever told you that you have/ have had a(n)________? History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record.
No references available
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Delayed motor milestones indicator
 
Single Pre-Defined Value Selected
       
C18804
Delayed motor milestones specify text
DelayMotorMIlstnST
The free-text field related to 'Delayed motor milestones indicator'. Whether the participant/subject has a history of delayed motor milestones. If participant had delayed motor milestones, indicate type of delayed motor milestones
Yes, specify
  
Alphanumeric
When asking participant/ subject use the following: Has a doctor or other medical professional ever told you that you have/ have had a(n)________? History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record.
No references available
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
 
4000
Free-Form Entry
       
C18619
Delayed motor milestone specify text
MotorMilestonesDelayedST
Specify in text the motor milestones that are were delayed
Yes, specify
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
10/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
 
255
Free-Form Entry
       
C10506
Genetic diagnosis established indicator
GeneticDiagnosEstablishedInd
Whether a genetic diagnosis for the disease/disorder was established
Was genetic diagnosis established?
Yes;No;
Yes;No;
Alphanumeric
When asking participant/ subject use the following: Has a doctor or other medical professional ever told you that you have/ have had a(n)________? History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record.
No references available
Adult;Pediatric
Core
3.0
7/14/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Genetic diagnosis established indicator
 
Single Pre-Defined Value Selected
       
C10507
Genetic diagnosis confirmation type
GenDiagnosConfrmTyp
Manner in which genetic diagnosis was confirmed
If Yes, Genetic diagnosis confirmed by
Participant/subject report;Medical record;Commercial testing;Research testing;
Participant/subject report;Medical record;Commercial testing;Research testing;
Alphanumeric
Choose all that apply.
No references available
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Genetic diagnosis confirmation type
 
Multiple Pre-Defined Values Selected
       
C10508
Genetic diagnosis established date and time
GenDiagnosEstDateTime
Date (and time if applicable and known) the genetic diagnosis was established
When
  
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.).
ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html)
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Genetic diagnosis established date and time
 
Free-Form Entry
       
C10509
Genetic diagnosis established by lab name
GenDiagnosEstLabNam
Name of the clinical laboratory who performed the genetic testing
Where: Name of clinical laboratory that performed genetic testing
  
Alphanumeric
History can be obtained from participant/ subject, family member, friend, or chart/ medical record.
No references available
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Genetic diagnosis established by lab name
255
Free-Form Entry
       
C10510
Genetic diagnosis established in city name
GenDiagnosEstCityNam
City where the clinical laboratory that performed the genetic testing is located
Where: City of clinical laboratory that performed genetic testing
  
Alphanumeric
History can be obtained from participant/ subject, family member, friend, or chart/ medical record.
No references available
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Genetic diagnosis established in city name
255
Free-Form Entry
       
C10511
Genetic diagnosis established in country name
GenDiagnosEstCntryNam
Country where the clinical laboratory that performed the genetic testing is located
Where: Country of clinical laboratory that performed genetic testing
  
Alphanumeric
History can be obtained from participant/ subject, family member, friend, or chart/ medical record.
ISO 3166-1 alpha-2 codes (http://www.iso.org/iso/iso_3166_code_lists)
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Genetic diagnosis established in country name
255
Free-Form Entry
       
C10512
Friedreich's ataxia length of GAA repeat allele 1 measurement
FALngthGAARptAll1Mes
The length of the GAA trinucleotide repeat on allele 1 found through genetic testing
Result
  
Numeric Values
Length of each GAA repeat on each allele; if the patient has a point mutation, provide the exact mutation
No references available
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Friedreich's ataxia length of GAA repeat allele 1 measurement
 
Free-Form Entry
       
C10513
Friedreich's ataxia length of GAA repeat allele 2 measurement
FALngthGAARptAll2Mes
Length of the GAA repeat on allele 2 found through genetic testing
Result
  
Numeric Values
History can be obtained from participant/ subject, family member, friend, or chart/ medical record.
No references available
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Friedreich's ataxia length of GAA repeat allele 2 measurement
 
Free-Form Entry
       
C10514
Genetic diagnosis point mutation result
GenDiagnosPtMutReslt
The result of the genetic testing revealed a point mutation describe the position and amino acid change
Result
  
Alphanumeric
Record the position and amino acid change, if applicable.
No references available
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Genetic diagnosis point mutation result
255
Free-Form Entry
       
C10515
Scoliosis diagnosis indicator
ScolDiagnosInd
The indicator of whether the participant/subject has been diagnosed with scoliosis
Was patient diagnosed with scoliosis?
Yes;No;Unknown;
History reported and/or confirmed in medical record;History NOT reported and NOT confirmed in medical record;History reported as unknown or could not be collected;
Alphanumeric
When asking participant/ subject use the following: Has a doctor or other medical professional ever told you that you have/ have had a(n)________? History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record. Unknown includes the scenario where information is not documented in the medical record.
No references available
Adult;Pediatric
Core
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Scoliosis diagnosis indicator
 
Single Pre-Defined Value Selected
       
C10516
Scoliosis maximum spine curvature measurement
ScolMaxSpnCrvtrMsrmnt
The maximum curvature of the spine in degrees for a participant/subject who has been diagnosed with scoliosis.
If Yes, Indicate degree of maximum curvature
  
Numeric Values
Record in degrees. Answer only if question #8 "Was patient diagnosed with scoliosis?" was answered Yes. History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record.
No references available
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Scoliosis maximum spine curvature measurement
 
Free-Form Entry
       
C10517
Scoliosis maximum spine curvature anatomic site
ScolMaxSpnCrvtrAntmicSite
The location of the maximum spine curvature for a participant/subject who has been diagnosed with scoliosis
Indicate location of maximum curvature
Cervical (C);Thoracic (T);Lumbar (L);Unknown/Not documented;
vertebrae are the seven spinal bones that support the neck;vertebrae are the 12 spinal bones that connect to the rib cage;vertebrae are the five lowest and largest bones of the spinal column. Most of the body's weight and stress falls on the lumbar vertebrae;;
Alphanumeric
Choose one. Answer only if question #8 "Was patient diagnosed with scoliosis?" was answered Yes. History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record.
No references available
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Scoliosis maximum spine curvature location
 
Single Pre-Defined Value Selected
       
C10518
Scoliosis last assessment date and time
ScolLstAssmntDate
Date (and time if applicable and known) the participant/subject was last assessed for scoliosis
Indicate date of last assessment
  
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.).
ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html)
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Scoliosis last assessment date and time
 
Free-Form Entry
       
C06452
Neuromuscular scoliosis surgery treat indicator
NeuromusclrSclsisSurgTrtInd
Indicator of whether the scoliosis has been surgical treated.
Indicate if the participant has had surgery
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
Choose one. Answer only if question #8 "Was patient diagnosed with scoliosis?" was answered Yes. History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record. Unknown includes the scenario where information is not documented in the medical record.
No references available
Adult;Pediatric
Core
3.0
7/17/2013
Refer to SCI CDE Annotated Form
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Neuromuscular scoliosis surgically treated indicator
 
Single Pre-Defined Value Selected
       
C10520
Vision affected by disease indicator
VisAffectDisInd
The indicator of whether the disease/disorder has affected the participant's/subject's vision
Was participant’s vision affected?
Yes;No;Unknown;
History reported and/or confirmed in medical record;History NOT reported and NOT confirmed in medical record;History reported as unknown or could not be collected;
Alphanumeric
Choose one. History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record. Unknown includes the scenario where information is not documented in the medical record.
No references available
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Vision affected by disease indicator
 
Single Pre-Defined Value Selected
       
C10521
Hearing affected by disease indicator
HearAffectDisInd
The indicator of whether the disease/disorder has affected the participant's/subject's hearing
Was participant’s hearing affected?
Yes;No;Unknown;
History reported and/or confirmed in medical record;History NOT reported and NOT confirmed in medical record;History reported as unknown or could not be collected;
Alphanumeric
Choose one. History can also be obtained from a family member, friend, or chart/ medical record. If the informant is unable to answer the question or is deemed unreliable (e.g., the participant/ subject has dementia) the history should be obtained from the medical record. Unknown includes the scenario where information is not documented in the medical record.
No references available
Adult;Pediatric
Supplemental
3.0
7/11/2013
Aliases for variable name not defined
Medical History of Friedreich's Ataxia
History of Disease/Injury Event
Disease/Injury Related Events
Hearing affected by disease indicator
 
Single Pre-Defined Value Selected
       
07-21-2019
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