Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene mutation myotonic dystrophy detected type NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
NIH CDEs
  • NINDS
    • Disease
      • Myotonic Dystrophy
        • Classification
          • Supplemental
        • Domain
          • Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
    • Domain
      • Assessments and Examinations
        • Laboratory Tests and Biospecimens/Biomarkers
    • Population
      • Adult
      • Pediatric

# Datatype
Value List

# Permissible value Value meaning name Value meaning definition
Homozygous Digenic (mutations in more than one gene) Homozygous Digenic (mutations in more than one gene) Homozygous Digenic (mutations in more than one gene)
No mutations detected No mutations detected No mutations detected
Repeat allele Repeat allele Repeat allele

# Definition
Type mutations detected

# Designation
Gene mutation myotonic dystrophy detected type

# Identifier Origin Version
71aSvE5jHR NLM CDEs 12-02-2025-download
GeneMutMyoDystDetTyp BRICS Variable Name N/A
C19750 NINDS 1