Terminology Service for NFDI4Health

Leukodystrophy

Go to external page http://purl.obolibrary.org/obo/NCIT_C61253


A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease. [ ]

Term info

Label

Leukodystrophy

Synonyms
  • Leukodystrophy
Legacy Concept Name

Leukodystrophy

Preferred Name

Leukodystrophy

Semantic Type

Disease or Syndrome

UMLS CUI

C0023520

code

C61253