Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Genetic diagnosis point mutation result NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NINDS
    • ▼ Disease
      • ▼ Friedreich's Ataxia
        • ▼ Classification
          • Core
        • ▼ Domain
          • ▼ Disease/Injury Related Events
            • History of Disease/Injury Event
    • ▼ Domain
      • ▼ Disease/Injury Related Events
        • History of Disease/Injury Event
    • ▼ Population
      • Adult
      • Pediatric

# Datatype Datatype text max length

UUID: e7782637-5789-528f-ad9b-3e804d6713e9

Text 255

# Definition

UUID: 48c72f20-7d16-5619-a8b0-d2ecfc16a5e6

The result of the genetic testing revealed a point mutation describe the position and amino acid change

# Designation

UUID: 0cbf726d-9c2c-50fd-997b-caff9eff92f5

Genetic diagnosis point mutation result

# Identifier Origin Version

UUID: 7b5b0ceb-977d-5a87-ac95-946602fec0f9

CRk8wYUumJk NLM CDEs 12-02-2025-download

UUID: efa5965b-08bd-5408-961f-b08f4f6eb168

GenDiagnosPtMutReslt BRICS Variable Name N/A

UUID: b67e8db8-ff5c-51d9-8e12-195b64bc59a0

C10514 NINDS 3