Homozygous Familial Hypercholesterolemia

Preferred Label : Homozygous Familial Hypercholesterolemia;

MeSH definition : A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age.;

MeSH synonym : Hypercholesterolemias, Homozygous Familial; HoFH;

MeSH hyponym : Autosomal Recessive Hypercholesterolemias; Hypercholesterolemias, Autosomal Recessive; Recessive Hypercholesterolemia, Autosomal; Recessive Hypercholesterolemias, Autosomal;

Details

Origin ID

D000090542;

UMLS CUI

C0342881;

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]
Currated CISMeF NLP mapping
- Familial hypercholesterolaemia - homozygous [ICD-11 More detail]
- Familial hypercholesterolemia - homozygous (disorder) [SNOMED CT concept]
- Homozygous familial hypercholesterolaemia [MedDRA LLT]
- Homozygous familial hypercholesterolemia [ORDO Disease]
- Homozygous familial hypercholesterolemia [MedDRA LLT]
- Hypercholesterolemia, Familial, 4 [NCIt concept]
- Hypercholesterolemia, familial, 4 [OMIM Phenotype]
ORDO relation(s)
- Homozygous familial hypercholesterolemia [ORDO Disease]
Record concept(s)
- Homozygous Familial Hypercholesterolemia [MeSH concept]
See also
- receptors, LDL [MeSH Descriptor]
See also inter- (CISMeF)
- low density lipoprotein receptor adaptor protein 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypercholesterolemia - homozygous (disorder) [SNOMED CT concept]
- Homozygous familial hypercholesterolaemia [MedDRA LLT]
- Homozygous familial hypercholesterolemia [MedDRA LLT]
- Homozygous familial hypercholesterolemia [ORDO Disease]
- homozygous familial hypercholesteremia [Disease (Nov.)]
- homozygous hyperlipoproteinemia type II [Disease (Nov.)]

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