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Descriptor English: Langer-Giedion Syndrome
Descriptor Spanish: Síndrome de Langer-Giedion
Descriptor síndrome de Langer-Giedion
Entry term(s) acrodisplasia V
síndrome de Giedion-Langer
síndrome tricorrinofalángico tipo II
Scope note: Trastorno autosómico dominante caracterizado por epífisis de forma cónica en las manos y exostosis cartilaginosas múltiples. A menudo existe DISCAPACIDAD INTELECTUAL y anomalías del cromosoma 8. Las exostosis en este síndrome tienen un aspecto idéntico a las de la EXOSTOSIS HEREDITARIA MÚLTIPLE.
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
Tree number(s): C05.116.099.708.582
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).
Annotation: an osteochondrodysplasia
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
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
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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