Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene exon copy number tested indicator NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NINDS
    • ▼ Disease
      • ▼ Cerebral Palsy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Duchenne/Becker Muscular Dystrophy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Facioscapulohumeral muscular dystrophy (FSHD)
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Myasthenia Gravis
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Spinal Muscular Atrophy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Domain
      • ▼ Assessments and Examinations
        • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Population
      • Adult
      • Pediatric

# Datatype

UUID: f87bede7-4c9e-5879-b129-531a2af00941

Value List

# Permissible value Value meaning name Value meaning definition

UUID: d3942660-f5bb-5c9c-99b8-dc1008de8fee

No No No

UUID: 2f6d1627-acd4-50bc-b9b4-d6e227a17176

Unknown Unknown Unknown

UUID: 98154952-fef8-58b1-acb9-4bbf599f1863

Yes Yes Yes

# Definition

UUID: 4e6dc234-1e8b-514c-89d8-e4896ab9ecf7

Whether the copy number was directly tested for all exons

# Designation

UUID: 9c0f1169-2fb9-5ae8-a15f-4afea07c8e36

Gene exon copy number tested indicator

# Identifier Origin Version

UUID: 39ebb99d-39e7-56a7-bf40-b3a0865abab2

GeneExonCopyNumTestInd BRICS Variable Name N/A

UUID: 201fd1dd-a9ec-52ab-a65f-a9babccbf837

C12788 NINDS 3

UUID: cac2799c-50d0-538c-ac8c-a6095de22c51

bbYYvbyQVhf NLM CDEs 12-02-2025-download