hyperlipoproteinemia type iii

Preferred Label : hyperlipoproteinemia type iii;

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.;

MeSH synonym : familial hypercholesterolemia with hyperlipemia; broad beta disease; dysbetalipoproteinemia, familial; broad-beta hyperlipoproteinemia; dysbetalipoproteinemia; hyperlipoproteinemia, broad-beta; hyperlipoproteinemia, broad beta; familial dysbetalipoproteinemia; hyperlipoproteinemia, type III; hyperlipoproteinemias, type III; type III hyperlipoproteinemia; type III hyperlipoproteinemias;

Related MeSH term : Autosomal Recessive Hypercholesterolemias; Recessive Hypercholesterolemia, Autosomal; Hypercholesterolemia, Autosomal Recessive;

Wikipedia link : https://en.wikipedia.org/wiki/Hyperlipoproteinemia type iii;

Details

Origin ID

D006952;

UMLS CUI

C0020479;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Dysbetalipoproteinaemia [MedDRA LLT]
- Dysbetalipoproteinemia [MedDRA LLT]
- Hypercholesterolemia, familial, 1 [OMIM Phenotype]
- Hyperchylomicronaemia [MedDRA Preferred Term]
- Hyperlipidaemia type 3 [ICD-11 More detail]
- Hyperlipoproteinemia, type I [OMIM Phenotype]
- Hyperlipoproteinemia, type V [OMIM Phenotype]
- Type II hyperlipoproteinemia [MedDRA LLT]
- cholesterol [MedlinePlus Topic]
- cholesterol levels: what you need to know [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Dysbetalipoproteinemia [ORDO Disease]
- Familial type 3 hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia, type III [OMIM Phenotype]
- Remnant Hyperlipidemia [NCIt concept]
- Remnant hyperlipidaemia [MedDRA Preferred Term]
- Remnant hyperlipidemia [MedDRA LLT]
- Type III hyperlipidaemia [MedDRA Preferred Term]
- Type III hyperlipoproteinaemia [MedDRA LLT]
- Type III hyperlipoproteinemia [MedDRA LLT]
- familial type 3 hyperlipoproteinemia [SNOMED Notion]
- hyperlipoproteinemia type III [DO Concept]
- hyperlipoproteinemia type III [Disease (Nov.)]
DO Cross reference
- hyperlipoproteinemia type III [DO Concept]
ORDO relation(s)
- Dysbetalipoproteinemia [ORDO Disease]
Record concept(s)
- Autosomal Recessive Hypercholesterolemia [MeSH concept]
- hyperlipoproteinemia type III [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dysbetalipoproteinaemia [MedDRA LLT]
- Dysbetalipoproteinemia [MedDRA LLT]
- Dysbetalipoproteinemia [ORDO Disease]
- Familial type 3 hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia, type III [OMIM Phenotype]
- Remnant Hyperlipidemia [NCIt concept]
- Remnant hyperlipidaemia [MedDRA Preferred Term]
- Remnant hyperlipidemia [MedDRA LLT]
- Type III hyperlipidaemia [MedDRA Preferred Term]
- Type III hyperlipidemia [MedDRA LLT]
- Type III hyperlipoproteinaemia [MedDRA LLT]
- Type III hyperlipoproteinemia [MedDRA LLT]
- Type III lipidaemia [MedDRA LLT]
- Type III lipidemia [MedDRA LLT]
- familial type 3 hyperlipoproteinemia [SNOMED Notion]
- hyperlipoproteinemia type III [DO Concept]
- hyperlipoproteinemia type III [Disease (Nov.)]

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