CDE Detailed Report

Disease: Friedreich's Ataxia
Sub-Domain: History of Disease/Injury Event
CRF: Medical History of Friedreich's Ataxia

Displaying 1 - 31 of 31
CDE ID CDE Name Variable Name Definition Short Description Additional Notes (Question Text) Permissible Values Description Data Type Disease Specific Instructions Disease Specific Reference Population Classification (e.g., Core) Version Number Version Date CRF Name (CRF Module / Guideline) Sub Domain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C10513 Friedreich's ataxia length of GAA repeat allele 2 measurement FALngthGAARptAll2Mes Length of the GAA repeat on allele 2 found through genetic testing 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Free-Form Entry

C10526 Assistive walking device started use age value AsstWlkngDevStrtUse Age when the participant/subject began using the assistive walking device Age when the participant/subject began using the assistive walking device If Yes, indicate age when participant required assistance with walking Numeric Values

Record age in years. 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

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 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C10514 Genetic diagnosis point mutation result GenDiagnosPtMutReslt The result of the genetic testing revealed a point mutation describe the position and amino acid change 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events 255

Free-Form Entry

C10709 Walking assistive device indicator WalkAssistiveDeviceInd Indicator of whether the participant/subject uses an assistive device for walking Indicator of whether the participant/subject uses an assistive device for walking Does participant use an assistive walking device? Yes;No;Unknown Yes;No;Unknown 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.;Choose one. If answer is "No" or "Unknown" stop here and do not complete the rest of the form.

No references available Adult;Pediatric Supplemental 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C10504 Impaired physical ability during infancy indicator ImpPhysAbilDurngInfInd Whether the participant/subject has a history of impaired physical abilities during infancy 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C10515 Scoliosis diagnosis indicator ScolDiagnosInd The indicator of whether the participant/subject has been diagnosed with scoliosis 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

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 Specify in text the problems other than those listed that occurred during the neonatal period Yes, specify Alphanumeric No references available Adult;Pediatric Supplemental 1.00 2013-10-11 00:00:00.0 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events 255

Free-Form Entry

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 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

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. 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Free-Form Entry

C18619 Delayed motor milestone specify text MotorMilestonesDelayedST Specify in text the motor milestones that are were delayed Specify in text the motor milestones that are were delayed Yes, specify Alphanumeric No references available Adult;Pediatric Supplemental 1.00 2013-10-11 00:00:00.0 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 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 3.00 2013-07-14 03:55:23.71 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

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 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

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 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 3.00 2013-07-24 21:00:23.88 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events 4000

Free-Form Entry

C10507 Genetic diagnosis confirmation type GenDiagnosConfrmTyp Manner in which genetic diagnosis was confirmed 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Multiple Pre-Defined Values Selected

C10518 Scoliosis last assessment date and time ScolLstAssmntDate Date (and time if applicable and known) the participant/subject was last assessed for scoliosis 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Free-Form Entry

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 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events 4000

Free-Form Entry

C10508 Genetic diagnosis established date and time GenDiagnosEstDateTime Date (and time if applicable and known) the genetic diagnosis was established 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Free-Form Entry

C10520 Vision affected by disease indicator VisAffectDisInd The indicator of whether the disease/disorder has affected the participant's/subject's vision 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C10509 Genetic diagnosis established by lab name GenDiagnosEstLabNam Name of the clinical laboratory who performed the genetic testing 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events 255

Free-Form Entry

C10521 Hearing affected by disease indicator HearAffectDisInd The indicator of whether the disease/disorder has affected the participant's/subject's hearing 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C06452 Neuromuscular scoliosis surgery treat indicator NeuromusclrSclsisSurgTrtInd Indicator of whether the scoliosis has been surgical treated. 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 3.00 2013-07-17 09:26:36.973 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C10510 Genetic diagnosis established in city name GenDiagnosEstCityNam City where the clinical laboratory that performed the genetic testing is located The name of 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events 255

Free-Form Entry

C10522 Speech affected by disease indicator SpchAffectDisInd The indicator of whether the disease/disorder has affected the participant's/subject's speech The indicator of whether the disease/disorder has affected the participant's/subject's speech Was participant's speech 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 Core 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C10500 Symptom onset age value SymptomOnsetAgeVal Age when symptoms first experienced 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 3.00 2013-07-25 08:54:08.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Free-Form Entry

C10511 Genetic diagnosis established in country name GenDiagnosEstCntryNam Country where the clinical laboratory that performed the genetic testing is located The name of 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events 255

Free-Form Entry

C10523 Foot surgery indicator FtSurgInd The indicator of whether the participant/subject has had foot surgery The indicator of whether the participant/subject has had foot surgery 12) Did participant have foot surgery? 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C10501 Diagnosis initial age value DiagnosAgeVal Age of the participant/subject when initially diagnosed with disease/disorder 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 3.00 2013-07-24 16:29:10.887 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Free-Form Entry

year
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 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 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Free-Form Entry

C10524 Ambulation affected by disease indicator AmbulAffectDisInd The indicator of whether the disease/disorder has affected the participant's/subject's ambulatory ability The indicator of whether the disease/disorder has affected the participant's/subject's ambulatory ability Was participant's ambulation status 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 Core 3.00 2013-07-11 15:03:49.2 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

C10502 Symptom first experienced text SymptmFirstExpTxt First symptom of the disease/disorder experienced by the participant/subject 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 3.00 2013-07-24 21:00:23.88 Medical History of Friedreich's Ataxia History of Disease/Injury Event Disease/Injury Related Events

Single Pre-Defined Value Selected

CSV