Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene mutation detected digenic result specify NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NINDS
    • ▼ Disease
      • ▼ Cerebral Palsy
        • ▼ Classification
          • Supplemental-Highly Recommended
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Duchenne/Becker Muscular Dystrophy
        • ▼ Classification
          • Supplemental-Highly Recommended
        • ▼ 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
          • Core
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Domain
      • ▼ Assessments and Examinations
        • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Population
      • Adult
      • Pediatric

# Datatype Datatype text max length

UUID: 6d805716-195f-542a-80c2-2e6ca4d5b2c9

Text 4000

# Definition

UUID: 1e500a87-da22-5d94-8a20-ffa911c92e41

The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected

# Designation

UUID: a32f7eae-d693-54be-a5f9-eae64bb9f685

Gene mutation detected digenic result specify

# Identifier Origin Version

UUID: f5dadca4-ac06-5436-b6c9-65a737d95a7a

C18873 NINDS 3

UUID: 8bb00932-0b64-586b-b18c-944142e22162

hQsvcvWtcu0 NLM CDEs 12-02-2025-download

UUID: 8a3f5ea9-bc52-53f1-9050-31f2b00dc96a

GeneMutDetectedResltST BRICS Variable Name N/A