| Descriptor in English: | Genetic Diseases, Inborn |
| Descriptor in Spanish: | Enfermedades Genéticas Congénitas |
| Descriptor in Portuguese: | Doenças Genéticas Inatas |
| Descriptor in 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 |
| 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 |
| History Note: | 2002 |
| See also the descriptors: |
Genetics, Medical
MeSH |
| DeCS UI: | 6702 |
| Descriptor UI: | D030342 |
| 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 |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
