Hyperlipoproteinemia, Type IIa

Preferred Label : Hyperlipoproteinemia, Type IIa;

NCIt synonyms : FH; Familial Hypercholesterolemia; Type IIa Hyperlipidemia; Hyperlipidemia Type IIa;

NCIt definition : An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.;

Details

Origin ID

C123416;

UMLS CUI

C0745103;

Automatic exact mappings (from CISMeF team)
- Familial hyperaldosteronism [ORDO Disease]
- Familial hypercholesterolemia [MedDRA LLT]
- Familial hypercholesterolemia [ORDO Disease]
- Familial hypercholesterolemia (disorder) [SNOMED CT concept]
- Fumarate hydratase [OMIM gene]
- Hypercholesterolemia, familial [OMIM phenotypic series]
- Hypercholesterolemia, familial, 1 [OMIM Phenotype]
- cholesterol [MedlinePlus Topic]
- cholesterol levels: what you need to know [MedlinePlus Topic]
- familial hypercholesterolemia [SNOMED Notion]
- familial hypercholesterolemia [DO Concept]
- fumarate hydratase [ORDO Gene]
- low density lipoprotein receptor [ORDO Gene]
- low density lipoprotein receptor [HGNC gene]
Currated CISMeF NLP mapping
- Type IIa hyperlipidemia [MedDRA LLT]
- Type IIa hyperlipoproteinemia [MedDRA LLT]
- hyperlipoproteinemia type IIa [MeSH concept]
False automatic mappings
- Family history with explicit context (situation) [SNOMED CT concept]
See also inter- (CISMeF)
- high LDL cholesterol level [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fredrickson Type IIa hyperlipidaemia [MedDRA LLT]
- Fredrickson Type IIa hyperlipidemia [MedDRA LLT]
- Fredrickson Type IIa hyperlipoproteinaemia [MedDRA LLT]
- Fredrickson Type IIa hyperlipoproteinemia [MedDRA LLT]
- Fredrickson Type IIa lipidaemia [MedDRA LLT]
- Fredrickson Type IIa lipidemia [MedDRA LLT]
- Fredrickson type IIa hyperlipoproteinemia (disorder) [SNOMED CT concept]
- Hypercholesterolemia, familial, 1 [OMIM Phenotype]
- Type IIa hyperlipidaemia [MedDRA Preferred Term]
- Type IIa hyperlipidemia [MedDRA LLT]
- Type IIa hyperlipoproteinaemia [MedDRA LLT]
- Type IIa hyperlipoproteinemia [MedDRA LLT]
- hyperlipoproteinemia type IIa [MeSH concept]
- hyperlipoproteinemia type IIa [Disease (Nov.)]
Validated automatic mappings to NTBT
- hyperlipoproteinemia type ii [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- LDLR Gene [NCIt concept]
related_to_genetic_biomarker
- LDLR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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