National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Neuronal Ceroid Lipofuscinosis
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61257
code

C61257
DEFINITION

A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.
label

Neuronal Ceroid Lipofuscinosis
Legacy_Concept_Name

Neuronal_Ceroid_Lipofuscinosis
Preferred_Name

Neuronal Ceroid Lipofuscinosis
prefixIRI

C61257
prefLabel

Neuronal Ceroid Lipofuscinosis
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0027877
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10/E75.4 International Classification of Diseases, Version 10 LOOM
http://purl.obolibrary.org/obo/DOID_14503 Human Disease Ontology 123 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.1 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.4 International Classification of Diseases, Version 10 - Clinical Modification LOOM