Hyperlipoproteinemia, type III

Preferred Label : Hyperlipoproteinemia, type III;

CISMeF acronym : LDLCQ5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dysbetalipoproteinemia due to defect in apolipoprotein e-D; FLOATING-BETALIPOPROTEINEMIA; Familial hyperbeta- and prebetalipoproteinemia; Familial hypercholesterolemia with hyperlipemia; Hyperlipemia with familial hypercholesterolemic xanthomatosis; BROAD-BETALIPOPROTEINEMIA; Apolipoprotein e, deficiency or defect of;

Included titles and symbols : Coronary artery disease, severe, susceptibility to; Low density lipoprotein cholesterol level quantitative trait locus 5; LDLCQ5;

Prefixed ID : #617347;

Détails

Origin ID

617347;

UMLS CUI

C0020479;

Automatic exact mappings (from CISMeF team)
- APOE wt Allele [NCIt concept]
- Floating-Betalipoproteinemia [MeSH concept]
- apolipoprotein E, deficiency or defect of [MeSH Supplementary Concept]
- apolipoprotein E, deficiency or defect of [MeSH concept]
- dysbetalipoproteinemia due to defect in apolipoprotein E-d [MeSH Supplementary Concept]
- dysbetalipoproteinemia due to defect in apolipoprotein E-d [MeSH concept]
- familial hyperbeta- and prebetalipoproteinemia [MeSH Supplementary Concept]
- familial hyperbeta- and prebetalipoproteinemia [MeSH concept]
- hyperlipemia with familial hypercholesterolemic xanthomatosis [MeSH Supplementary Concept]
- hyperlipemia with familial hypercholesterolemic xanthomatosis [MeSH concept]
CISMeF manual mappings
- Floating-Betalipoproteinemia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Broad-Betalipoproteinemia [MeSH Supplementary Concept]
- Broad-Betalipoproteinemia [MeSH concept]
- Dysbetalipoproteinemia [ORDO Disease]
- Familial type 3 hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Remnant 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 [MeSH concept]
- hyperlipoproteinemia type iii [MeSH Descriptor]
DO Cross reference
- hyperlipoproteinemia type III [DO Concept]
Genes related to phenotype
- Apolipoprotein e [OMIM gene]
ORDO concept(s)
- Dysbetalipoproteinemia [ORDO Disease]
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]
- 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 [MeSH concept]
- hyperlipoproteinemia type III [Disease (Nov.)]
- hyperlipoproteinemia type iii [MeSH Descriptor]

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