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Descriptor English: Frasier Syndrome
Descriptor Spanish: Síndrome de Frasier
Descriptor síndrome de Frasier
Scope note: Síndrome caracterizado por INSUFICIENCIA RENAL CRÓNICA y DISGENESIA GONADAL en individuos que fenotípicamente son mujeres y tienen un cariotipo 46,XY o 46,XX. Está causado por mutaciones del sitio donador del gen supresor del tumor de Wilms (GENES DEL TUMOR DE WILMS) en el cromosoma 11.
Descriptor Portuguese: Síndrome de Frasier
Descriptor French: Syndrome de Frasier
Tree number(s): C12.050.351.875.253.096.624
C12.050.351.968.419.780.750.500.500
C12.200.706.316.096.624
C12.200.777.419.780.750.500.500
C12.800.316.096.624
C12.950.419.780.750.500.500
C16.131.939.316.096.624
C16.320.306
C19.391.119.096.624
C23.550.291.500.906.500.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D052159
Scope note: A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Annotation: do not confuse with FRASER SYNDROME
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: Syndrome de Fraser MeSH
DeCS ID: 50492
Unique ID: D052159
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2006/01/01
Date of Entry: 2005/06/30
Revision Date: 2012/07/03
Syndrome de Frasier - Preferred
Concept UI M0391904
Preferred term Syndrome de Frasier



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