Metachromatic leukodystrophy

ICD-11 code : 5C56.02;

Preferred Label : Metachromatic leukodystrophy;

ICD-11 definition : Metachromatic leukodystrophy is a neurodegenerative disease characterised by an accumulation of sulfatides (sulphated glycosphingolipids, especially sulfogalactosylceramides or sulfogalactocerebrosides) in the nervous system and kidneys. Three forms of the disease exist: late infantile, juvenile and adult.;

ICD-11 synonym : Greenfield's disease; Greenfield's disease (metachromatic leukodystrophy);

Details

Origin ID

172326564;

UMLS CUI

C0023522;

Currated CISMeF NLP mapping
- Metachromatic Leukodystrophy [NCIt concept]
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- Metachromatic leukodystrophy [OMIM Phenotype]
- Metachromatic leukodystrophy [PASCAL descriptor]
- Metachromatic leukodystrophy [ORDO Disease]
- arylsulfatase A deficiency [MeSH concept]
- leukodystrophy, metachromatic [MeSH Descriptor]
- leukodystrophy, metachromatic [MeSH concept]
- metachromatic leukodystrophy [DO Concept]
- metachromatic leukodystrophy [Radlex concept]
- metachromatic leukodystrophy [Disease (Nov.)]
ICD-10 Mapping
- Sphingolipidosis, unspecified [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metachromatic Leukodystrophy [NCIt concept]
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- Metachromatic leukodystrophy [OMIM Phenotype]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy [PASCAL descriptor]
- leukodystrophy, metachromatic [MeSH Descriptor]
- leukodystrophy, metachromatic [MeSH concept]
- metachromatic leukodystrophy [DO Concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy [Radlex concept]
- metachromatic leukodystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Metachromatic leukodystrophy, late infantile type (disorder) [SNOMED CT concept]
- metachromatic leukodystrophy, nos [SNOMED Notion]

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