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Lysosomal Storage Diseases (CUI C0085078) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0085078

NCI Thesaurus Code: C61250  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease.

CDISC Definition: Disorder caused by defects in the function of the lysosomes resulting in the presence of small clear vacuoles containing phospholipids within the cytoplasm of various cells. (INHAND)

CSP Definition: inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

MSH Definition: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

Synonyms & Abbreviations: (see Synonym Details)
Disease, Lysosomal Storage
Diseases, Lysosomal Storage
Disorder of lysosomal enzyme (disorder)
Disorder of Lysosomal Enzymes
Disorder of lysosomal enzyme
Disorder, Lysosomal Enzyme
Disorders, Lysosomal Enzyme
Enzyme Disorder, Lysosomal
Enzyme Disorders, Lysosomal
inborn lysosomal enzyme disorder
Lysosomal enzyme defect
Lysosomal Enzyme Disorders
Lysosomal Enzyme Disorder
LYSOSOMAL ENZYME DIS
Lysosomal Storage Diseases [Disease/Finding]
Lysosomal Storage Diseases
lysosomal storage disease
Lysosomal storage disorders
Lysosomal Storage Disorder
LYSOSOMAL STORAGE DIS
PHOSPHOLIPIDOSIS

External Source Codes: 
NCI Thesaurus Code C61250 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source CDISC NCI
Contributing_Source NICHD NCI
CTV3ID XUA10 SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-5878 CSP
DX 19920101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HN 92 MSH
MDA 19910102 MSH
MESH_DEFINITION Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. NDFRT
MESH_DUI D016464 NDFRT
MESH_NAME Lysosomal Storage Diseases NDFRT
MESH_UI M0025150 NDFRT
MMR 20060705 MSH
MN C16.320.565.595 MSH
MN C18.452.648.595 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Lysosomal Storage Disorder NCI
NUI N0000003414 NDFRT
PM 92 MSH
RXAUI 3191071 RXNORM
RXAUI 3191081 RXNORM
RXAUI 3191082 RXNORM
RXCUI 1027716 RXNORM
SNOMED_CID 23585005 NDFRT
SNOMEDID D6-70000 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E88.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E88.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E88.89 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUA10 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-70000 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T049276 MSH
TERMUI T049277 MSH
TH NLM (1992) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0085078

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