skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201706 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Leukodystrophy (CUI C0023520) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0023520

NCI Thesaurus Code: C61253  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: 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.

GARD Definition: Leukodystrophy refers to the progressive degeneration of the white matter of the brain due to abnormalities of myelin, the fatty covering that insulates nerves. The leukodystrophies are a group of disorders caused by mutations in the genes involved in the production of myelin. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a leukodystrophy is a gradual decline in functioning of an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.   - this information is from GARD/ORDR/NCATS.

HPO Definition: Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. [HPO:probinson]

MEDLINEPLUS Definition: 

The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with

  • Movement
  • Speaking
  • Vision
  • Hearing
  • Mental and physical development

Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time.

There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies.

NIH: National Institute of Neurological Disorders and Stroke

CSP Definition: group of diseases affecting the white matter of the brain, especially the cerebral hemispheres, due to defects in the formation and maintenance of myelin in infants and children.

Synonyms & Abbreviations: (see Synonym Details)
Degeneration of white matter of brain
Leucodystrophy
Leukodystrophies
Leukodystrophy (disorder)
Leukodystrophy NOS
leukodystrophy

External Source Codes: 
NCI Thesaurus Code C61253 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID F100. SNOMEDCT_US
DATE_CREATED 08/22/2002 MEDLINEPLUS
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-5479 CSP
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HPO_COMMENT The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. HPO
ICE Krabbe's disease; Leukodystrophy: {NOS; globoid cell; metachromatic; sudanophilic}; Pelizaeus-Merzbacher disease; Sulfatide lipidosis ICD9CM
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2013-08-02T00:00:00 GARD
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/leukodystrophies.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/leukodystrophies.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
PRIMARY_PATH 10024381$10024579$10027424$10010331$Leukodystrophy$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6895/leukodystrophy/resources/1 GARD
REF orcid.org/0000-0001-5208-3432; https://en.wikipedia.org/wiki/leukodystrophy HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMEDID DF-008EF SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E75.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E75.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E75.29 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.29 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F100. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DF-008EF SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0023520

Mainbox Bottom