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Descriptor English: Genetic Diseases, Inborn
Descriptor Spanish: Enfermedades Genéticas Congénitas
Descriptor Portuguese: Doenças Genéticas Inatas
Descriptor French: Maladies génétiques congénitales
Entry term(s): Defect, Single-Gene
Defects, Single-Gene
Disease, Genetic
Disease, Hereditary
Disease, Inborn Genetic
Diseases, Genetic
Diseases, Hereditary
Diseases, Inborn Genetic
Disorder, Genetic
Disorders, Genetic
Genetic Disease
Genetic Disease, Inborn
Genetic Diseases
Genetic Disorder
Genetic Disorders
Hereditary Disease
Hereditary Diseases
Inborn Genetic Disease
Inborn Genetic Diseases
Single Gene Defects
Single-Gene Defect
Single-Gene Defects
Tree number(s): C16.320
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D030342
Scope note: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Annotation: general; prefer /genet with specific diseases
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
Public MeSH Note: 2002; for HEREDITARY DISEASES see HEREDITARY DISEASES 1968-2001
History Note: 2002
Entry Version: GENET DIS INBORN
Related: Genetics, Medical MeSH
DeCS ID: 6702
Unique ID: D030342
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2002/01/01
Date of Entry: 2001/07/25
Revision Date: 2016/06/09
Genetic Diseases, Inborn - Preferred
Concept UI M0385531
Scope note Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Preferred term Genetic Diseases, Inborn
Entry term(s) Disease, Inborn Genetic
Diseases, Inborn Genetic
Genetic Disease, Inborn
Inborn Genetic Disease
Inborn Genetic Diseases
Hereditary Diseases - Narrower
Concept UI M0010254
Scope note Diseases caused by genetic mutations that are inherited from a parent's genome.
Preferred term Hereditary Diseases
Entry term(s) Disease, Genetic
Disease, Hereditary
Diseases, Genetic
Diseases, Hereditary
Disorder, Genetic
Disorders, Genetic
Genetic Disease
Genetic Diseases
Genetic Disorder
Genetic Disorders
Hereditary Disease
Single-Gene Defects - Related but not broader or narrower
Concept UI M0010256
Preferred term Single-Gene Defects
Entry term(s) Defect, Single-Gene
Defects, Single-Gene
Single Gene Defects
Single-Gene Defect



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