National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Sphingolipidosis

Synonyms

Sphingolipidosis

Definitions

An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117254

code

C117254

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

CTRP

NICHD

DEFINITION

An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

Display_Name

Sphingolipidosis

FULL_SYN

Sphingolipidosis

label

Sphingolipidosis

Preferred_Name

Sphingolipidosis

prefixIRI

Thesaurus:C117254

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0037899

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97092

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