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Hyperlipoproteinemia Type III (CUI C0020479) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0020479

NCI Thesaurus Code: C34710  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A laboratory test result indicating a type of inherited dysbetalipoproteinemia in which the triglyceride and total cholesterol concentrations are increased and the high-density lipoprotein concentration is decreased.

CSP Definition: rather uncommon form of familial hyperlipemia characterized by the presence of lipoproteins of abnormal composition; the main abnormal lipoproteins are called beta-VLDL and have a different apoprotein content and a higher proportion of cholesterol relative to triglyceride than normal VLDL.

MSH Definition: An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.

Synonyms & Abbreviations: (see Synonym Details)
Apolipoprotein E deficiency
broad beta disease
BROAD BETA DIS
Broad-beta Hyperlipoproteinemia
Carbohydrate induced hyperlipaemia
carbohydrate induced hyperlipemia
Dysbetalipoproteinaemia
Dysbetalipoproteinemia, Familial
DYSBETALIPOPROTEINEMIA
Dyslipidemia type 3
Familial dysbetalipoproteinaemia
Familial dysbetalipoproteinemia
Familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia
Familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia
Familial hypercholesterolaemia with hyperlipaemia
Familial Hypercholesterolemia with Hyperlipemia
Familial hyperlipoproteinemia type 3
familial hyperlipoproteinemia type III
Familial type 3 hyperlipoproteinaemia
Familial type 3 hyperlipoproteinemia (disorder)
Familial type 3 hyperlipoproteinemia
Familial type III hyperlipoproteinaemia
floating beta disease
Fredrickson type III hyperlipoproteinaemia
Fredrickson type III hyperlipoproteinemia
HLP type 3
Hyperlipidemia type 3
HYPERLIPIDEMIA TYPE III
HYPERLIPOPROTEINEMIA TYPE 03
Hyperlipoproteinemia type 3
Hyperlipoproteinemia Type III [Disease/Finding]
HYPERLIPOPROTEINEMIA TYPE III
Hyperlipoproteinemia, Broad beta
Hyperlipoproteinemia, Broad-beta
HYPERLIPOPROTEINEMIA, TYPE III
Hyperlipoproteinemias, Type III
Primary dysbetalipoproteinaemia
Primary dysbetalipoproteinemia
Remnant disease
Remnant hyperlipidaemia
Remnant hyperlipidemia
Remnant hyperlipoproteinaemia
Remnant hyperlipoproteinemia
Remnant removal disease
Type III hyperlipidaemia
Type III hyperlipidemia
Type III hyperlipoproteinaemia
Type III Hyperlipoproteinemias
Type III hyperlipoproteinemia
Type III lipidaemia
Type III lipidemia

External Source Codes: 
NCI Thesaurus Code C34710 (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 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID XUYfW SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-4681 CSP
DID 1849-4738 CSP
DISEASE_IDENTIFIER_ID 18822 GARD
DISEASE_IDENTIFIER_ID 18823 GARD
DISEASE_IDENTIFIER_ID 18825 GARD
DISEASE_IDENTIFIER_ID 18826 GARD
DISEASE_IDENTIFIER_ID 18827 GARD
DISEASE_IDENTIFIER_ID 18828 GARD
DISEASE_IDENTIFIER_ID 33060 GARD
DISEASE_IDENTIFIER_ID 33061 GARD
DISEASE_IDENTIFIER_ID 33062 GARD
DISEASE_IDENTIFIER_ID 33063 GARD
DX 19800101 MSH
EFFECTIVE_TIME 20030731 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 80 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19790423 MSH
MESH_DEFINITION An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides. NDFRT
MESH_DUI D006952 NDFRT
MESH_NAME Hyperlipoproteinemia Type III NDFRT
MESH_UI M0010834 NDFRT
MMR 20120703 MSH
MN C16.320.565.398.483 MSH
MN C18.452.584.500.500.644.485 MSH
MN C18.452.648.398.483 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001595 NDFRT
PM 80 MSH
PRIMARY_PATH 10038316$10014477$10013317$10027433$Remnant hyperlipidaemia$Elevated cholesterol with elevated triglycerides$Lipid metabolism disorders$Metabolism and nutrition disorders MDR
PRIMARY_PATH 10060751$10059674$10027424$10010331$Type III hyperlipidaemia$Inborn errors of lipid metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PRIMARY_SOC 10027433 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 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/6703/hyperlipidemia-type-3/resources/1 GARD
RXAUI 3119011 RXNORM
RXAUI 3149389 RXNORM
RXAUI 3174337 RXNORM
RXAUI 3174338 RXNORM
RXAUI 3287146 RXNORM
RXAUI 3287243 RXNORM
RXAUI 3287244 RXNORM
RXAUI 3287541 RXNORM
RXAUI 5039479 RXNORM
RXCUI 1024096 RXNORM
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 398796005 NDFRT
SNOMEDID D6-60062 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E78.2 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~E78.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E78.2 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~E78.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUYfW SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-60062 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 T020884 MSH
TERMUI T020885 MSH
TERMUI T020886 MSH
TERMUI T646160 MSH
TERMUI T646161 MSH
TERMUI T646572 MSH
TERMUI T662325 MSH
TERMUI T824545 MSH
TH NLM (1980) MSH
TH NLM (2007) MSH
TH OMIM (2013) 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=C0020479

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