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Type II Hyperlipidemia (CUI C0020445) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0020445

NCI Thesaurus Code: C34704  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.

HPO Definition: An elevated concentration of low-density lipoprotein cholesterol in the blood. [HPO:probinson]

CSP Definition: characterized by increased plasma concentration of cholesterol carried in low density lipoproteins (LDL) and by a deficiency in a cell surface receptor which regulates LDL degradation and cholesterol synthesis.

MSH Definition: A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).

Synonyms & Abbreviations: (see Synonym Details)
Density Lipoproteinemia, Hyper-Low
Density Lipoproteinemias, Hyper-Low
ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA
Essential Hypercholesterolemias
Essential Hypercholesterolemia
familial hyperbetalipoproteinemia
familial hypercholesteremia
Familial hypercholesterolaemia
Familial Hypercholesterolemias
FAMILIAL HYPERCHOLESTEROLEMIA
Familial Hypercholesterolemic Xanthomatoses
Familial Hypercholesterolemic Xanthomatosis
familial hyperlipoproteinemia type II
Fredrickson Type II hyperlipidaemia
Fredrickson Type II hyperlipidemia
Fredrickson Type II lipidaemia
Fredrickson Type II lipidemia
Hyper beta Lipoproteinemia
Hyper Low Density Lipoproteinemia
Hyper-beta-Lipoproteinemias
Hyper-beta-lipoproteinemia
Hyper-Low Density Lipoproteinemias
Hyper-Low Density Lipoproteinemia
Hyper-Low-Density-Lipoproteinemias
Hyper-Low-Density-Lipoproteinemia
Hyperbetalipoproteinaemia
Hyperbetalipoproteinemia (disorder)
Hyperbetalipoproteinemias
HYPERBETALIPOPROTEINEMIA
HYPERCHOLESTEROLEMIA, ESSENTIAL FAMILIAL
Hypercholesterolemia, Essential
Hypercholesterolemia, Familial
Hypercholesterolemias, Essential
Hypercholesterolemias, Familial
Hypercholesterolemic Xanthomatoses, Familial
Hypercholesterolemic Xanthomatosis, Familial
HYPERLIPIDEMIA TYPE II
HYPERLIPOPROTEINEMIA TYPE 02
Hyperlipoproteinemia Type 2s
Hyperlipoproteinemia type 2
Hyperlipoproteinemia Type II [Disease/Finding]
Hyperlipoproteinemia Type IIs
HYPERLIPOPROTEINEMIA TYPE II
HYPERLIPOPROTEINEMIA, TYPE II
Hyperlipoproteinemias, Type II
Lipoproteinemia, Hyper-Low Density
Lipoproteinemias, Hyper-Low Density
Type 2, Hyperlipoproteinemia
Type II hyperlipidaemia
Type II hyperlipidemia
Type II hyperlipoproteinaemia
Type II Hyperlipoproteinemias
Type II hyperlipoproteinemia
Type II lipidaemia
Type II lipidemia
Xanthomatoses, Familial Hypercholesterolemic
Xanthomatosis, Familial Hypercholesterolemic

External Source Codes: 
NCI Thesaurus Code C34704 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 900000000000448009 SNOMEDCT_US
CTV3ID C3201 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-4634 CSP
DISEASE_IDENTIFIER_ID 18818 GARD
DISEASE_IDENTIFIER_ID 18819 GARD
DISEASE_IDENTIFIER_ID 18820 GARD
DX 19800101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 2007 (1980) MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19790423 MSH
MESH_DEFINITION A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). NDFRT
MESH_DUI D006938 NDFRT
MESH_NAME Hyperlipoproteinemia Type II NDFRT
MESH_UI M0010819 NDFRT
MMR 20130709 MSH
MN C16.320.565.398.481 MSH
MN C18.452.584.500.500.644.475 MSH
MN C18.452.648.398.481 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001581 NDFRT
ORDER_NO 04678 ICD10CM
PM 2007; see HYPERCHOLESTEROLEMIA, FAMILIAL 1980-2007 MSH
PRIMARY_PATH 10045254$10059674$10027424$10010331$Type II hyperlipidaemia$Inborn errors of lipid metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 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
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6702/hyperlipoproteinemia-type-2/resources/1 GARD
RXAUI 3174195 RXNORM
RXAUI 3174225 RXNORM
RXAUI 3287524 RXNORM
RXAUI 3287525 RXNORM
RXAUI 3287529 RXNORM
RXAUI 3287536 RXNORM
RXAUI 3287539 RXNORM
RXAUI 3287540 RXNORM
RXAUI 5039464 RXNORM
RXAUI 5039468 RXNORM
RXAUI 5039478 RXNORM
RXCUI 1022244 RXNORM
SID HP:0008343 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 8.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_LMVERSION 8.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 190773008 NDFRT
SNOMED_CID 397915002 NDFRT
SNOMED_CID 398036000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E78.0 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~E78.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E78.00 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~E78.00 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3201 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T020859 MSH
TERMUI T020860 MSH
TERMUI T020861 MSH
TERMUI T020862 MSH
TERMUI T646570 MSH
TERMUI T751032 MSH
TERMUI T751033 MSH
TERMUI T811643 MSH
TERMUI T811644 MSH
TERMUI T824592 MSH
TH NLM (1980) MSH
TH NLM (2007) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) 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=C0020445

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