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Descriptor en español: |
Síndrome de Weill-Marchesani
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Descriptor en inglés: | Weill-Marchesani Syndrome | ||||||
Descriptor en portugués: | Síndrome de Weill-Marchesani | ||||||
Descriptor en francés: | Syndrome de Weill-Marchesani | ||||||
Término(s) alternativo(s): |
Congenital Mesodermal Dysmorphodystrophies Congenital Mesodermal Dysmorphodystrophy Dysmorphodystrophies, Congenital Mesodermal Dysmorphodystrophy, Congenital Mesodermal GEMSS Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome Marchesani Syndrome Marchesani Weill Syndrome Marchesani-Weill Syndrome Marchesani-Weill Syndromes Mesodermal Dysmorphodystrophies, Congenital Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome Spherophakia Brachymorphia Syndromes Spherophakia-Brachymorphia Syndrome Syndrome, Spherophakia Brachymorphia Syndromes, Spherophakia Brachymorphia Weill Marchesani Syndrome Weill Marchesani Syndrome, Autosomal Dominant Weill Marchesani Syndrome, Autosomal Recessive Weill-Marchesani Syndrome, Autosomal Dominant Weill-Marchesani Syndrome, Autosomal Recessive |
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Código(s) jeráquico(s): |
C05.116.099.343.957 C11.270.921 C16.131.077.941 C16.320.290.842 C17.300.899 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D056846 | ||||||
Nota de alcance: | 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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Calificadores permitidos: |
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 |
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Nota Pública de MeSH: | 2010 |
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Nota de historia: | 2010 |
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Vea también los descriptores: |
Marfan Syndrome
MeSH | ||||||
Identificador de DeCS: | 53490 | ||||||
ID del Descriptor: | D056846 | ||||||
Documentos indizados en la Biblioteca Virtual de Salud (BVS): | Haga clic aquí para acceder a los documentos de la BVS | ||||||
Fecha de establecimiento: | 01/01/2010 | ||||||
Fecha de entrada: | 06/07/2009 | ||||||
Fecha de revisión: | 23/06/2015 |
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DISEASES
Eye Diseases [C11]Eye Diseases
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Weill-Marchesani Syndrome
- Concepto preferido
Weill-Marchesani Syndrome, Autosomal Recessive
- Más estrecho
Weill-Marchesani Syndrome, Autosomal Dominant
- Más estrecho
UI del concepto |
M0529438 |
Nota de alcance | 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. |
Término preferido | Weill-Marchesani Syndrome |
Término(s) alternativo(s) |
Congenital Mesodermal Dysmorphodystrophies Congenital Mesodermal Dysmorphodystrophy Dysmorphodystrophies, Congenital Mesodermal Dysmorphodystrophy, Congenital Mesodermal Marchesani Syndrome Marchesani Weill Syndrome Marchesani-Weill Syndrome Marchesani-Weill Syndromes Mesodermal Dysmorphodystrophies, Congenital Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome Spherophakia Brachymorphia Syndromes Spherophakia-Brachymorphia Syndrome Syndrome, Spherophakia Brachymorphia Syndromes, Spherophakia Brachymorphia Weill Marchesani Syndrome |
UI del concepto |
M0529440 |
Nota de alcance | The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations. |
Término preferido | Weill-Marchesani Syndrome, Autosomal Recessive |
Término(s) alternativo(s) |
Weill Marchesani Syndrome, Autosomal Recessive |
UI del concepto |
M0529439 |
Nota de alcance | The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations. |
Término preferido | Weill-Marchesani Syndrome, Autosomal Dominant |
Término(s) alternativo(s) |
GEMSS Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome Weill Marchesani Syndrome, Autosomal Dominant |
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