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Descriptor English: Homozygous Familial Hypercholesterolemia
Descriptor Spanish: Hipercolesterolemia Familiar Homocigótica
Descriptor hipercolesterolemia familiar homocigótica
Entry term(s) HFHo
Scope note: Trastorno genético hereditario infrecuente, una forma de HIPERLIPOPROTEINEMIA TIPO II, caracterizado por un alto nivel de LIPOPROTEÍNAS DE BAJA DENSIDAD (LDL) que, si no se trata, podría aumentar la posibilidad de un infarto agudo de miocardio a una edad temprana.
Descriptor Portuguese: Hipercolesterolemia Familiar Homozigota
Descriptor French: Hypercholestérolémie familiale homozygote
Entry term(s): HoFH
Hypercholesterolemias, Homozygous Familial
Tree number(s): C16.320.565.398.481.500
C18.452.584.500.500.644.475.500
C18.452.584.563.481.500
C18.452.648.398.481.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000090542
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Hypercholesterolemia (1966-2021) / Hyperlipidemia/familial & genetic (1966-2021)
Public MeSH Note: 2022
History Note: 2022
Related: Receptors, LDL MeSH
DeCS ID: 59806
Unique ID: D000090542
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2022/01/01
Date of Entry: 2021/07/09
Revision Date: 2021/07/01
Homozygous Familial Hypercholesterolemia - Preferred
Concept UI M000746765
Scope note 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.
Preferred term Homozygous Familial Hypercholesterolemia
Entry term(s) HoFH
Hypercholesterolemias, Homozygous Familial



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