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Descriptor English: | Weill-Marchesani Syndrome | ||||||
Descriptor Spanish: |
Síndrome de Weill-Marchesani
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Descriptor Portuguese: | Síndrome de Weill-Marchesani | ||||||
Descriptor French: | Syndrome de Weill-Marchesani | ||||||
Entry term(s): |
Dysmorphodystrophie mésodermique congénitale SWM (Syndrome de Weill-Marchesani) Syndrome de Marchesani Syndrome de Weill-Marchesani à transmission autosomique dominante Syndrome de Weill-Marchesani à transmission autosomique récessive Syndrome de brachymorphie-sphérophakie |
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Tree number(s): |
C05.116.099.343.957 C11.270.921 C16.131.077.941 C16.320.290.842 C17.300.899 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D056846 | ||||||
Scope note: | Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. |
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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: |
Syndrome de Marfan
MeSH | ||||||
DeCS ID: | 53490 | ||||||
Unique ID: | D056846 | ||||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
Date Established: | 2010/01/01 | ||||||
Date of Entry: | 2009/07/06 | ||||||
Revision Date: | 2015/06/23 |
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Syndrome de Weill-Marchesani
- Preferred
Syndrome de Weill-Marchesani à transmission autosomique récessive
- Narrower
Syndrome de Weill-Marchesani à transmission autosomique dominante
- Narrower
Concept UI |
M0529438 |
Preferred term | Syndrome de Weill-Marchesani |
Entry term(s) |
Dysmorphodystrophie mésodermique congénitale SWM (Syndrome de Weill-Marchesani) Syndrome de Marchesani Syndrome de brachymorphie-sphérophakie |
Concept UI |
M0529440 |
Preferred term | Syndrome de Weill-Marchesani à transmission autosomique récessive |
Concept UI |
M0529439 |
Preferred term | Syndrome de Weill-Marchesani à transmission autosomique dominante |
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