Hypercholesterolemia, familial, 2

Preferred Label : Hypercholesterolemia, familial, 2;

Symbol : FHCL2;

CISMeF acronym : FCHL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Apolipoprotein b-100, familial defective; Apolipoprotein b-100, familial ligand-defective; Hypercholesterolemia, familial, due to ligand-defective apolipoprotein b; Hypercholesterolemia, autosomal dominant, type b;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the apolipoprotein B gene (APOB, 107730.0001);

Laboratory abnormalities : Hypercholesterolemia; Abnormal LDL;

Prefixed ID : #144010;

Details

Origin ID

144010;

UMLS CUI

C1704417;

Automatic exact mappings (from CISMeF team)
- Familial defective apolipoprotein B-100 [ICD-11 More detail]
- Familial defective apolipoprotein B-100 (disorder) [SNOMED CT concept]
- Familial hypercholesterolemia [ORDO Disease]
- hypercholesterolemia due to arg3500 mutation of apo B-100 [MeSH Supplementary Concept]
- hyperlipidemia, combined, 2 [MeSH Supplementary Concept]
- hyperlipoproteinemia type IIb [MeSH concept]
- hyperlipoproteinemia type ii [MeSH Descriptor]
Broader ORDO disease(s)
- Familial hypercholesterolemia [ORDO Disease]
Currated CISMeF NLP mapping
- Hypercholesterolemia, Familial, 2 [NCIt concept]
Genes related to phenotype
- Apolipoprotein b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal arcus [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Hypercholesterolemia [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Xanthelasma [HPO term]
ORDO concept(s)
- Familial hypercholesterolemia [ORDO Disease]
- Homozygous familial hypercholesterolemia [ORDO Disease]
See also inter- (CISMeF)
- hyperlipoproteinemia type IIb [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial defective apolipoprotein B-100 (disorder) [SNOMED CT concept]
- Fredrickson Type IIb hyperlipoproteinaemia [MedDRA LLT]
- Fredrickson Type IIb hyperlipoproteinemia [MedDRA LLT]
- Hypercholesterolemia, Familial, 2 [NCIt concept]
- Hyperlipoproteinemia Type II [NCIt concept]
- Type IIb hyperlipoproteinaemia [MedDRA LLT]
- Type IIb hyperlipoproteinemia [MedDRA LLT]
- hyperlipoproteinemia type IIb [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients