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| Descriptor English: | Genetic Diseases, Inborn | ||||||
| Descriptor Spanish: |
Enfermedades Genéticas Congénitas
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| Descriptor Portuguese: | Doenças Genéticas Inatas | ||||||
| Descriptor French: | Maladies génétiques congénitales | ||||||
| Entry term(s): |
Anomalies monogéniques Génopathies Génopathies monogéniques Maladie héréditaire Maladies héréditaires Maladies monogéniques |
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| Tree number(s): |
C16.320 |
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| 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. |
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| Annotation: | general; prefer /genet with specific diseases |
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| Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CO complications DG imagerie diagnostique DH diétothérapie DI diagnostic DT traitement médicamenteux EC économie EH ethnologie EM embryologie EN enzymologie EP épidémiologie ET étiologie GE génétique HI histoire IM immunologie ME métabolisme MI microbiologie MO mortalité NU soins infirmiers PA anatomopathologie PC prévention et contrôle PP physiopathologie PS parasitologie PX psychologie RH rééducation et réadaptation RT radiothérapie SU chirurgie TH thérapie UR urine VE médecine vétérinaire VI virologie |
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| Related: |
Génétique médicale
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 |
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Maladies génétiques congénitales
- Preferred
Maladies héréditaires
- Narrower
Anomalies monogéniques
- Related but not broader or narrower
| Concept UI |
M0385531 |
| Preferred term | Maladies génétiques congénitales |
| Entry term(s) |
Génopathies |
| Concept UI |
M0010254 |
| Preferred term | Maladies héréditaires |
| Entry term(s) |
Maladie héréditaire |
| Concept UI |
M0010256 |
| Preferred term | Anomalies monogéniques |
| Entry term(s) |
Génopathies monogéniques Maladies monogéniques |
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