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NCIm Version: 201706 Version 2.8 (using LexEVS 6.5)
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Lipid Metabolism, Inborn Errors (CUI C0023772) Suggest changes to this concept
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Terms & Properties Synonym Details Relationships Sources View All  
Terms & Properties

Concept Unique Identifier (CUI): C0023772

Semantic Type: Disease or Syndrome

MSH Definition: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.

Synonyms & Abbreviations: (see Synonym Details)
Inborn errors of lipid metabolism
Inborn error of lipid metabolism
Lipid Metabolism, Inborn Error
Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors [Disease/Finding]
LIPID METAB INBORN ERR
LIPID METAB INBORN ERRORS

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
AN coordinate IM with specific lipid /metab (IM); DF: LIPID METAB INBORN ERR 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
DC 1 MSH
DX 19650101 MSH
HN 65 MSH
MDA 19990101 MSH
MESH_DEFINITION Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. NDFRT
MESH_DUI D008052 NDFRT
MESH_NAME Lipid Metabolism, Inborn Errors NDFRT
MESH_UI M0012549 NDFRT
MMR 20070709 MSH
MN C16.320.565.398 MSH
MN C18.452.584.562 MSH
MN C18.452.648.398 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001848 NDFRT
PM 65 MSH
PRIMARY_PATH 10072272$10059674$10027424$10010331$Inborn error of lipid metabolism$Inborn errors of lipid metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
RXAUI 3189695 RXNORM
RXAUI 3189696 RXNORM
RXAUI 3189697 RXNORM
RXCUI 1028201 RXNORM
SMQ_TERM_ADDVERSION 15.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 15.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
TERMUI T023992 MSH
TERMUI T023993 MSH
TH NLM (1965) MSH
TH NLM (1991) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0023772

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