CDE Detailed Report
Disease: Amyotrophic Lateral Sclerosis
Subdomain Name: Classification
CRF: Genetics
Displaying 1 - 5 of 5
Subdomain Name: Classification
CRF: Genetics
Displaying 1 - 5 of 5
| CDE ID | CDE Name | Variable Name | Definition | Short Description | 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 / Guidance) | Subdomain Name | Domain Name | Size | Input Restrictions | Min Value | Max Value | Measurement Type | External Id Loinc | External Id Snomed | External Id caDSR | External Id CDISC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
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| C19516 | Blood sample repository name | BloodSampleRepositoryName | Name of repository to which the participant gave a blood sample | Name of repository to which the participant gave a blood sample | If yes, name of repository | Alphanumeric | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:11.0 | Genetics | Classification | Disease/Injury Related Events | 4000 |
Free-Form Entry |
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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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| 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 |
Choose one |
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 |
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| 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 |
