Hyperlipidemia, familial combined, 3

Preferred Label : Hyperlipidemia, familial combined, 3;

Symbol : FCHL3;

CISMeF acronym : FCHL3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Familial combined hyperlipidemia;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the lipoprotein lipase gene (LPL, 609708.0033);

Laboratory abnormalities : Elevated serum cholesterol; Elevated triglycerides; Reduced HDL cholesterol; Hyperlipidemia, mild, variable;

Prefixed ID : #144250;

Détails

Origin ID

144250;

UMLS CUI

C0020474;

Automatic exact mappings (from CISMeF team)
- Other hyperlipidaemia [ICD-10 Sub-category (who)]
- Other hyperlipidemia [ICD-10 Sub-category]
- cholesterol [MedlinePlus Topic]
- cholesterol levels: what you need to know [MedlinePlus Topic]
- triglycerides [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Familial combined hyperlipidemia (disorder) [SNOMED CT concept]
- Hyperlipoproteinemia, Type IIb [NCIt concept]
- familial combined hyperlipidemia [DO Concept]
- familial combined hyperlipidemia [SNOMED Notion]
- hyperlipidemia, familial combined [MeSH Descriptor]
- hyperlipidemia, familial combined [MeSH concept]
DO Cross reference
- familial combined hyperlipidemia [DO Concept]
Genes related to phenotype
- Lipoprotein lipase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating apolipoprotein A-II concentration [HPO term]
- Elevated circulating apolipoprotein B concentration [HPO term]
- Hypercholesterolemia [HPO term]
- Hyperlipidemia [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Increased VLDL cholesterol concentration [HPO term]
- Myocardial infarction [HPO term]
- Xanthelasma [HPO term]
ORDO concept(s)
- Familial lipoprotein lipase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined hyperlipidemia [ORDO Disease]
- Familial combined hyperlipidemia (disorder) [SNOMED CT concept]
- Familial multiple lipoprotein-type hyperlipidemia (disorder) [SNOMED CT concept]
- Hyperapobetalipoproteinemia [HPO term]
- Hyperlipoproteinemia, Type IIb [NCIt concept]
- Mixed hyperlipidaemia [ICD-10 Sub-category (who)]
- Type IIb hyperlipidaemia [MedDRA Preferred Term]
- Type IIb hyperlipidemia [MedDRA LLT]
- familial combined hyperlipidemia [SNOMED Notion]
- familial combined hyperlipidemia [DO Concept]
- hyperlipidemia, familial combined [MeSH Descriptor]
- hyperlipidemia, familial combined [MeSH concept]

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