CDE Detailed Report

Disease: content
Sub-Domain: Classification
CRF: welcome

Displaying 1 - 5 of 5
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
C10850 NINDS Human Genetics DNA and Cell Line Repository blood sample indicator NINDSReposBldSampInd Indicator whether the participant/subject gave a blood sample to the NINDS Human Genetics DNA and Cell Line Repository (a.k.a., Coriell repository) Indicator whether the participant/subject gave a blood sample to the NINDS Human Genetics DNA and Cell Line Repository (a.k.a., Coriell repository) Have you given a blood sample to a repository? Yes;No;Unknown Yes;No;Unknown Alphanumeric

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No references available Adult Supplemental 3.00 2013-07-22 16:57:17.79 Genetics Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

C17786 Gene mutation type text GeneMutTypTxt The free-text field to specify the mutation found on the specific gene of the participant/subject The free-text field to specify the mutation found on the specific gene of the participant/subject Specify mutation Alphanumeric No references available Adult Supplemental 3.00 2013-07-22 16:57:17.79 Genetics Classification Disease/Injury Related Events 255

Free-Form Entry

C19515 Gene screened type GeneScreenedTyp Type of genes screened for mutations in patient Type of genes screened for mutations in patient What genes were screened for mutations in this patient? Chromosome 9 open reading frame 72 protein [C9ORF72];Fused in sarcoma [FUS];SOP1;TDP43;VCP Chromosome 9 open reading frame 72 protein [C9ORF72];Fused in sarcoma [FUS];SOP1;TDP43;VCP Alphanumeric Adult;Pediatric Core 1.00 2014-07-07 09:54:05.0 Genetics Classification Disease/Injury Related Events

Multiple Pre-Defined Values Selected

C19516 Blood sample repository name BloodSampleRepositoryName Name of repository to which the participant/subject gave a blood sample Name of repository to which the participant/subject gave a blood sample If yes, name of repository Alphanumeric Adult;Pediatric Supplemental 3.00 2013-07-22 16:57:17.79 Genetics Classification Disease/Injury Related Events 4000

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C19517 Positive gene type PositiveGeneTyp Type of gene found to be positive after screening Type of gene found to be positive after screening Of the genes that were screened, which ones are positive? Chromosome 9 open reading frame 72 protein [C9ORF72];Fused in sarcoma [FUS];SOP1;TDP43;VCP Chromosome 9 open reading frame 72 protein [C9ORF72];Fused in sarcoma [FUS];SOP1;TDP43;VCP Alphanumeric Adult;Pediatric Core 1.00 2014-07-07 09:54:05.0 Genetics Classification Disease/Injury Related Events

Multiple Pre-Defined Values Selected

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