| 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
Hereditary Diseases
- Narrower
Single-Gene Defects
- Related but not broader or narrower
| 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 |
| 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 |
| 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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