You have selected the view in French
| Descriptor English: | Rubinstein-Taybi Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Rubinstein-Taybi
| ||||||
| Descriptor Portuguese: | Síndrome de Rubinstein-Taybi | ||||||
| Descriptor French: | Syndrome de Rubinstein-Taybi | ||||||
| Entry term(s): |
SRT (Syndrome de Rubinstein-Taybi) Syndrome de Rubinstein et Taybi Syndrome des pouces et des gros orteils trop larges |
||||||
| Tree number(s): |
C05.116.099.370.797 C05.660.207.850 C10.597.606.360.700 C16.131.077.804 C16.131.260.790 C16.131.621.207.850 C16.320.180.790 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D012415 | ||||||
| Scope note: | A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). |
||||||
| 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 |
||||||
| Related: |
Déficience intellectuelle
MeSH | ||||||
| DeCS ID: | 12788 | ||||||
| Unique ID: | D012415 | ||||||
| NLM Classification: | QS 675 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2018/06/30 |
|
|
Syndrome de Rubinstein-Taybi
- Preferred
| Concept UI |
M0019298 |
| Preferred term | Syndrome de Rubinstein-Taybi |
| Entry term(s) |
SRT (Syndrome de Rubinstein-Taybi) Syndrome de Rubinstein et Taybi Syndrome des pouces et des gros orteils trop larges |
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
