Preferred Label : hyperlipoproteinemia type ii;
MeSH definition : A group of familial disorders characterized by elevated circulating cholesterol contained
in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS
(pre-beta lipoproteins).;
MeSH synonym : density lipoproteinemia, Hyper-Low; Hyper-beta-Lipoproteinemias; hyperlipoproteinemia type IIs; type 2, hyperlipoproteinemia; hyper-low density lipoproteinemias; hyperbetalipoproteinemias; essential hypercholesterolemias; familial hypercholesterolemia; hyperbetalipoproteinemia; Hyper-beta-Lipoproteinemia; hyper beta lipoproteinemia; hypercholesterolemia, familial; familial hypercholesterolemias; hypercholesterolemias, familial; lipoproteinemia, hyper-low density; lipoproteinemias, hyper-low density; hypercholesterolemia, essential; essential hypercholesterolemia; hypercholesterolemias, essential; hyperlipoproteinemia type 2; hyperlipoproteinemia type 2s; hyper-low density lipoproteinemia; density lipoproteinemias, Hyper-Low; hyper low density lipoproteinemia; hyperlipoproteinemia, type II; hyperlipoproteinemias, type II; type II hyperlipoproteinemia; type II hyperlipoproteinemias; hypercholesterolemic xanthomatosis, familial; familial hypercholesterolemic xanthomatoses; familial hypercholesterolemic xanthomatosis; hypercholesterolemic xanthomatoses, familial; xanthomatoses, familial hypercholesterolemic; xanthomatosis, familial hypercholesterolemic; Hyper-Low-Density-Lipoproteinemia; Hyper-Low-Density-Lipoproteinemias;
CISMeF synonym : 2, hyperlipoproteinemia type; 2s, hyperlipoproteinemia type; type 2s, hyperlipoproteinemia;
MeSH hyponym : hyperlipoproteinemia type IIb; hyperlipoproteinemia type IIa; Hyperlipoproteinemia Type IIbs; Hypercholesterolemia, Autosomal Dominant, Type B; Familial Combined Hyperlipoproteinemia; Combined Hyperlipoproteinemia, Familial; Combined Hyperlipoproteinemias, Familial; Familial Combined Hyperlipoproteinemias; Hyperlipoproteinemia, Familial Combined; Hyperlipoproteinemias, Familial Combined; Apolipoprotein B-100, Familial Defective; Apolipoprotein B 100, Familial Defective; Apolipoprotein B-100, Familial Ligand-Defective; Apolipoprotein B 100, Familial Ligand Defective; Hyperlipoproteinemia Type IIas; Hyperlipoproteinemia, Type IIa; Hyperlipoproteinemias, Type IIa; Type IIa Hyperlipoproteinemia; Type IIa Hyperlipoproteinemias; Hypercholesterolemia, Autosomal Dominant; Autosomal Dominant Hypercholesterolemia; Autosomal Dominant Hypercholesterolemias; Dominant Hypercholesterolemia, Autosomal; Dominant Hypercholesterolemias, Autosomal; Hypercholesterolemias, Autosomal Dominant; LDL Receptor Disorder; Disorder, LDL Receptor; Disorders, LDL Receptor; LDL Receptor Disorders; Receptor Disorder, LDL; Receptor Disorders, LDL;
Wikipedia link : https://en.wikipedia.org/wiki/Hyperlipoproteinemia type 2;
Origin ID : D006938;
UMLS CUI : C0020445;
- Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- HPO term
- Has phenotype(s) (HPO)
- ORDO relation(s)
- Record concept(s)
- Related MeSH Supplementary Concept(s)
- See also
- See also (suggested by CISMeF)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
A group of familial disorders characterized by elevated circulating cholesterol contained
in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS
(pre-beta lipoproteins).
https://www.cochrane.org/fr/CD012985/CF_strategies-de-soins-de-sante-pour-lidentification-de-lhypercholesterolemie-familiale-clinique
2021
United Kingdom
review of literature
french abstract
high serum cholesterol, familial
principal
high serum cholesterol, familial
hospitals, proprietary
primary health care
familial hypercholesterolemia
health care
De-Identification
primary health care
family nursing
Identification, Psychological
hyperlipoproteinemia type ii
Hypercholesterolemia
---
https://www.cochrane.org/fr/CD006401/les-statines-chez-les-enfants-souffrant-dhypercholesterolemie-familiale
2019
false
false
false
France
United Kingdom
adolescent
treatment outcome
meta-analysis
french abstract
hydroxymethylglutaryl-coa reductase inhibitors
child
hyperlipoproteinemia type ii
---
https://www.medg.fr/hypercholesterolemie-familiale-heterozygote
2018
France
teaching material
scientific and technical information
heterozygote
Hypercholesterolemia
familial hypercholesterolemia
hyperlipoproteinemia type ii
heterozygote
high serum cholesterol, familial
high serum cholesterol, familial
---
https://www.revmed.ch/RMS/2017/RMS-N-558/Inhibiteurs-de-la-PCSK9
2017
false
false
false
Switzerland
French
journal article
Proprotein Convertase 9
Proprotein Convertase 9
anticholesteremic agents
anticholesteremic agents
cardiovascular diseases
risk factors
cholesterol, LDL
At increased risk for cardiovascular event (finding)
hydroxymethylglutaryl-coa reductase inhibitors
hypercholesterolemia
Proprotein Convertase 9
mutation
alirocumab
evolocumab
PCSK9 protein, human
bococizumab
comparative effectiveness research
high serum cholesterol, familial
antibodies, monoclonal
serine endopeptidases
proprotein convertases
antibodies, monoclonal, humanized
hyperlipoproteinemia type ii
---
http://www.cfp.ca/content/62/1/e4.full
2016
false
false
true
Canada
French
journal article
hyperlipoproteinemia type ii
hyperlipoproteinemia type ii
hyperlipoproteinemia type ii
hypolipidemic agents
---
http://www.coramh.org/
Canada
French
English
ataxia
ataxia
ataxia
signs and symptoms
genetic counseling
cystic fibrosis
cystic fibrosis
cystic fibrosis
cystic fibrosis
hereditary sensory and motor neuropathy
hereditary sensory and motor neuropathy
hereditary sensory and motor neuropathy
acidosis, lactic
acidosis, lactic
acidosis, lactic
tyrosinemias
tyrosinemias
tyrosinemias
tyrosinemias
myotonic dystrophy
myotonic dystrophy
myotonic dystrophy
hyperlipoproteinemia type ii
hyperlipoproteinemia type ii
hyperlipoproteinemia type ii
hyperlipoproteinemia type ii
quebec
genetic diseases, inborn
rare diseases
genetic diseases, inborn
association of patients
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=406
2008
true
France
French
hyperlipoproteinemia type ii
hyperlipoproteinemia type ii
scientific and technical information
---