Leukodystrophy

Preferred Label : Leukodystrophy;

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.;

Details

Origin ID

C61253;

UMLS CUI

C0023520;

Automatic exact mappings (from CISMeF team)
- Leukodystrophies [ICD-11 Category]
Currated CISMeF NLP mapping
- Leucodystrophy [MedDRA LLT]
- Leukodystrophies [MedDRA High Level Term]
- Leukodystrophy [ICD-9 code]
- Leukodystrophy [PASCAL descriptor]
- Leukodystrophy [HPO term]
- Leukodystrophy [MedDRA Preferred Term]
- Leukodystrophy [ORDO Disease]
- Leukodystrophy (disorder) [SNOMED CT concept]
- leukodystrophies [MedlinePlus Topic]
- leukodystrophy [DO Concept]
- leukodystrophy [Disease (Nov.)]
- leukodystrophy, nos [SNOMED Notion]
DO Cross reference
- leukodystrophy [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leucodystrophy [MedDRA LLT]
- Leukodystrophies [MedDRA High Level Term]
- Leukodystrophy [MedDRA Preferred Term]
- Leukodystrophy [ORDO Disease]
- Leukodystrophy [ICD-9 code]
- Leukodystrophy [HPO term]
- Leukodystrophy [PASCAL descriptor]
- Leukodystrophy (disorder) [SNOMED CT concept]
- leukodystrophies [MedlinePlus Topic]
- leukodystrophy [DO Concept]
- leukodystrophy [Disease (Nov.)]
- leukodystrophy, nos [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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