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Descriptor English: | Langer-Giedion Syndrome | ||||||
Descriptor Spanish: |
Síndrome de Langer-Giedion
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Descriptor Portuguese: | Síndrome de Langer-Giedion | ||||||
Descriptor French: | Syndrome de Langer-Giedion | ||||||
Entry term(s): |
Acrodysplasie V Dysplasie tricho-rhino-phalangienne de type 2 Dysplasie tricho-rhino-phalangienne de type II Syndrome tricho-rhino-phalangien avec exostoses Syndrome tricho-rhino-phalangien de type 2 Syndrome tricho-rhino-phalangien de type II |
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Tree number(s): |
C05.116.099.708.582 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D015826 | ||||||
Scope note: | Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). |
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Annotation: | an osteochondrodysplasia |
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Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CN congénital 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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DeCS ID: | 24765 | ||||||
Unique ID: | D015826 | ||||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
Date Established: | 1990/01/01 | ||||||
Date of Entry: | 1989/05/15 | ||||||
Revision Date: | 2013/07/08 |
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Syndrome de Langer-Giedion
- Preferred
Concept UI |
M0024244 |
Preferred term | Syndrome de Langer-Giedion |
Entry term(s) |
Acrodysplasie V Dysplasie tricho-rhino-phalangienne de type 2 Dysplasie tricho-rhino-phalangienne de type II Syndrome tricho-rhino-phalangien avec exostoses Syndrome tricho-rhino-phalangien de type 2 Syndrome tricho-rhino-phalangien de type II |
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