Preferred Name

异染性脑白质营养不良 / Metachromatic leukodystrophy

Definitions

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.

ID

http://purl.bmicc.cn/ontology/ICD11CN/5C56.02

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.

hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/172326564

label

异染性脑白质营养不良 / Metachromatic leukodystrophy

mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/E75.3

notation

5C56.02

prefixIRI

ICD11CN:C56.02

prefLabel

异染性脑白质营养不良 / Metachromatic leukodystrophy

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/5C56.0

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_10581 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.25 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/OMIM/250100 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61251 National Cancer Institute Thesaurus LOOM