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Descriptor en español: |
Enfermedades Genéticas Congénitas
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Descriptor en inglés: | Genetic Diseases, Inborn | ||||||
Descriptor en portugués: | Doenças Genéticas Inatas | ||||||
Descriptor en francés: | Maladies génétiques congénitales | ||||||
Término(s) alternativo(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 |
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Código(s) jeráquico(s): |
C16.320 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D030342 | ||||||
Nota de alcance: | 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. |
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Nota de indización: | general; prefer /genet with specific diseases |
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Calificadores permitidos: |
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 |
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Nota Pública de MeSH: | 2002; for HEREDITARY DISEASES see HEREDITARY DISEASES 1968-2001 |
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Nota de historia: | 2002 |
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Versión alternativa: | GENET DIS INBORN |
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Vea también los descriptores: |
Genetics, Medical
MeSH | ||||||
Identificador de DeCS: | 6702 | ||||||
ID del Descriptor: | D030342 | ||||||
Documentos indizados en la Biblioteca Virtual de Salud (BVS): | Haga clic aquí para acceder a los documentos de la BVS | ||||||
Fecha de establecimiento: | 01/01/2002 | ||||||
Fecha de entrada: | 25/07/2001 | ||||||
Fecha de revisión: | 09/06/2016 |
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Genetic Diseases, Inborn
- Concepto preferido
Hereditary Diseases
- Más estrecho
Single-Gene Defects
- Relacionado pero no más amplio ni más estrecho
UI del concepto |
M0385531 |
Nota de alcance | 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. |
Término preferido | Genetic Diseases, Inborn |
Término(s) alternativo(s) |
Disease, Inborn Genetic Diseases, Inborn Genetic Genetic Disease, Inborn Inborn Genetic Disease Inborn Genetic Diseases |
UI del concepto |
M0010254 |
Nota de alcance | Diseases caused by genetic mutations that are inherited from a parent's genome. |
Término preferido | Hereditary Diseases |
Término(s) alternativo(s) |
Disease, Genetic Disease, Hereditary Diseases, Genetic Diseases, Hereditary Disorder, Genetic Disorders, Genetic Genetic Disease Genetic Diseases Genetic Disorder Genetic Disorders Hereditary Disease |
UI del concepto |
M0010256 |
Término preferido | Single-Gene Defects |
Término(s) alternativo(s) |
Defect, Single-Gene Defects, Single-Gene Single Gene Defects Single-Gene Defect |
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