1 / 1 DeCS    
Descriptor English:   Hyperlipoproteinemia Type II 
Descriptor Spanish:   Hiperlipoproteinemia Tipo II 
Descriptor Portuguese:   Hiperlipoproteinemia Tipo II 
Synonyms English:   Apolipoprotein B 100, Familial Defective
Apolipoprotein B 100, Familial Ligand Defective
Apolipoprotein B-100, Familial Defective
Apolipoprotein B-100, Familial Ligand-Defective
Autosomal Dominant Hypercholesterolemia
Autosomal Dominant Hypercholesterolemias
Combined Hyperlipoproteinemia, Familial
Combined Hyperlipoproteinemias, Familial
Density Lipoproteinemia, Hyper-Low
Density Lipoproteinemias, Hyper-Low
Disorder, LDL Receptor
Disorders, LDL Receptor
Dominant Hypercholesterolemia, Autosomal
Dominant Hypercholesterolemias, Autosomal
Essential Hypercholesterolemia
Essential Hypercholesterolemias
Familial Combined Hyperlipoproteinemia
Familial Combined Hyperlipoproteinemias
Familial Hypercholesterolemia
Familial Hypercholesterolemias
Familial Hypercholesterolemic Xanthomatoses
Familial Hypercholesterolemic Xanthomatosis
Hyper Low Density Lipoproteinemia
Hyper beta Lipoproteinemia
Hyper-Low Density Lipoproteinemia
Hyper-Low Density Lipoproteinemias
Hyper-Low-Density-Lipoproteinemia
Hyper-Low-Density-Lipoproteinemias
Hyper-beta-Lipoproteinemia
Hyper-beta-Lipoproteinemias
Hyperbetalipoproteinemia
Hyperbetalipoproteinemias
Hypercholesterolemia, Autosomal Dominant
Hypercholesterolemia, Autosomal Dominant, Type B
Hypercholesterolemia, Essential
Hypercholesterolemia, Familial
Hypercholesterolemias, Autosomal Dominant
Hypercholesterolemias, Essential
Hypercholesterolemias, Familial
Hypercholesterolemic Xanthomatoses, Familial
Hypercholesterolemic Xanthomatosis, Familial
Hyperlipoproteinemia Type 2
Hyperlipoproteinemia Type 2s
Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIas
Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIbs
Hyperlipoproteinemia Type IIs
Hyperlipoproteinemia, Familial Combined
Hyperlipoproteinemia, Type II
Hyperlipoproteinemia, Type IIa
Hyperlipoproteinemias, Familial Combined
Hyperlipoproteinemias, Type II
Hyperlipoproteinemias, Type IIa
LDL Receptor Disorder
LDL Receptor Disorders
Lipoproteinemia, Hyper-Low Density
Lipoproteinemias, Hyper-Low Density
Receptor Disorder, LDL
Receptor Disorders, LDL
Type 2, Hyperlipoproteinemia
Type II Hyperlipoproteinemia
Type II Hyperlipoproteinemias
Type IIa Hyperlipoproteinemia
Type IIa Hyperlipoproteinemias
Xanthomatoses, Familial Hypercholesterolemic
Xanthomatosis, Familial Hypercholesterolemic  
Tree Number:   C16.320.565.398.481
C18.452.584.500.500.644.475
C18.452.648.398.481
Definition English:   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). 
History Note English:   2007 (1980) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   7118 
Unique Identifier:   D006938 


   DISEASES [C]
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
         Genetic Diseases, Inborn [C16.320]
            Metabolism, Inborn Errors [C16.320.565]
               Amino Acid Metabolism, Inborn Errors [C16.320.565.100] +
               Amino Acid Transport Disorders, Inborn [C16.320.565.151] +
               Amyloidosis, Familial [C16.320.565.176] +
               Brain Diseases, Metabolic, Inborn [C16.320.565.189] +
               Carbohydrate Metabolism, Inborn Errors [C16.320.565.202] +
               Cytochrome-c Oxidase Deficiency [C16.320.565.240]
               Hyperbilirubinemia, Hereditary [C16.320.565.300] +
               Lipid Metabolism, Inborn Errors [C16.320.565.398]
                  Barth Syndrome [C16.320.565.398.224]
                  Hyperlipidemia, Familial Combined [C16.320.565.398.450]
                  Hyperlipoproteinemia Type I [C16.320.565.398.465]
                  Hyperlipoproteinemia Type II [C16.320.565.398.481] 
                  Hyperlipoproteinemia Type III [C16.320.565.398.483]
                  Hyperlipoproteinemia Type IV [C16.320.565.398.487]
                  Hyperlipoproteinemia Type V [C16.320.565.398.493]
                  Hypolipoproteinemias [C16.320.565.398.500] +
                  Lipidoses [C16.320.565.398.641] +
                  Lipodystrophy, Congenital Generalized [C16.320.565.398.745]
                  Smith-Lemli-Opitz Syndrome [C16.320.565.398.850]
                  Xanthomatosis, Cerebrotendinous [C16.320.565.398.925]
               Lysosomal Storage Diseases [C16.320.565.595] +
               Metal Metabolism, Inborn Errors [C16.320.565.618] +
               Peroxisomal Disorders [C16.320.565.663] +
               Progeria [C16.320.565.753]
               Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798] +
               Renal Tubular Transport, Inborn Errors [C16.320.565.893]
               Steroid Metabolism, Inborn Errors [C16.320.565.925] +


   DISEASES [C]
      Nutritional and Metabolic Diseases [C18]
         Metabolic Diseases [C18.452]
            Lipid Metabolism Disorders [C18.452.584]
               Dyslipidemias [C18.452.584.500]
                  Hyperlipidemias [C18.452.584.500.500]
                     Hypercholesterolemia [C18.452.584.500.500.396]
                     Hyperlipidemia, Familial Combined [C18.452.584.500.500.438]
                     Hyperlipoproteinemias [C18.452.584.500.500.644]
                        Hyperlipoproteinemia Type I [C18.452.584.500.500.644.237]
                        Hyperlipoproteinemia Type II [C18.452.584.500.500.644.475] 
                        Hyperlipoproteinemia Type III [C18.452.584.500.500.644.485]
                        Hyperlipoproteinemia Type IV [C18.452.584.500.500.644.490]
                        Hyperlipoproteinemia Type V [C18.452.584.500.500.644.495]
                     Hypertriglyceridemia [C18.452.584.500.500.851] +


   DISEASES [C]
      Nutritional and Metabolic Diseases [C18]
         Metabolic Diseases [C18.452]
            Metabolism, Inborn Errors [C18.452.648]
               Amino Acid Metabolism, Inborn Errors [C18.452.648.100] +
               Amino Acid Transport Disorders, Inborn [C18.452.648.151] +
               Amyloidosis, Familial [C18.452.648.176] +
               Brain Diseases, Metabolic, Inborn [C18.452.648.189] +
               Carbohydrate Metabolism, Inborn Errors [C18.452.648.202] +
               Hyperbilirubinemia, Hereditary [C18.452.648.300] +
               Lipid Metabolism, Inborn Errors [C18.452.648.398]
                  Barth Syndrome [C18.452.648.398.224]
                  Hyperlipidemia, Familial Combined [C18.452.648.398.450]
                  Hyperlipoproteinemia Type I [C18.452.648.398.465]
                  Hyperlipoproteinemia Type II [C18.452.648.398.481] 
                  Hyperlipoproteinemia Type III [C18.452.648.398.483]
                  Hyperlipoproteinemia Type IV [C18.452.648.398.487]
                  Hyperlipoproteinemia Type V [C18.452.648.398.493]
                  Hypolipoproteinemias [C18.452.648.398.500] +
                  Lipidoses [C18.452.648.398.641] +
                  Lipodystrophy, Congenital Generalized [C18.452.648.398.745]
                  Smith-Lemli-Opitz Syndrome [C18.452.648.398.850]
                  Xanthomatosis, Cerebrotendinous [C18.452.648.398.925]
               Lysosomal Storage Diseases [C18.452.648.595] +
               Metal Metabolism, Inborn Errors [C18.452.648.618] +
               Peroxisomal Disorders [C18.452.648.663] +
               Progeria [C18.452.648.753]
               Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798] +
               Renal Tubular Transport, Inborn Errors [C18.452.648.893]
               Steroid Metabolism, Inborn Errors [C18.452.648.925] +