Search on: GENETIC DISEASES, INBORN 
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Descriptor English:   Genetic Diseases, Inborn 
Descriptor Spanish:   Enfermedades Genéticas Congénitas 
Descriptor Portuguese:   Doenças Genéticas Inatas 
Synonyms English:   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:   C16.320
Definition English:   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. 
Indexing Annotation English:   general; prefer /genet with specific diseases
See Related English:   Genetics, Medical
 
History Note English:   2002 
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:   6702 
Unique Identifier:   D030342 

Occurrence in VHL: 		 

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DeCS