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Descriptor English: Smith-Lemli-Opitz Syndrome
Descriptor Spanish: Síndrome de Smith-Lemli-Opitz
Descriptor síndrome de Smith-Lemli-Opitz
Scope note: Trastorno autosómico recesivo del metabolismo del COLESTEROL. Dicho síndrome es producido por deficiencia de 7-deshidrocolesterol reductasa, la enzima que convierte el 7-deshidrocolesterol en colesterol, lo que da lugar a concentraciones plasmáticas de colesterol anormalmente bajas. Este síndrome se caracteriza por ANOMALÍAS CONGÉNITAS múltiples, deficiencia del crecimiento y DISCAPACIDAD INTELECTUAL.
Descriptor Portuguese: Síndrome de Smith-Lemli-Opitz
Descriptor French: Syndrome de Smith-Lemli-Optiz
Entry term(s): Déficit en 7-déhydrocholestérol réductase
Syndrome RSH
Syndrome RSH-SLO
Syndrome de Rutledge Friedman Harrod
Syndrome de Smith-Lemli-Opitz de type 1
Syndrome de Smith-Lemli-Opitz de type 2
Syndrome de Smith-Lemli-Opitz de type I
Syndrome de Smith-Lemli-Opitz de type II
Tree number(s): C16.131.077.860
C16.320.565.398.850
C16.320.565.925.875
C18.452.584.500.937
C18.452.584.563.850
C18.452.648.398.850
C18.452.648.925.875
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D019082
Scope note: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Allowable Qualifiers: BL sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
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: 32609
Unique ID: D019082
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1996/01/01
Date of Entry: 1995/06/05
Revision Date: 2013/07/08
Syndrome de Smith-Lemli-Optiz - Preferred
Concept UI M0028480
Preferred term Syndrome de Smith-Lemli-Optiz
Entry term(s) Syndrome RSH
Syndrome RSH-SLO
Syndrome de Smith-Lemli-Opitz de type II - Narrower
Concept UI M0028482
Preferred term Syndrome de Smith-Lemli-Opitz de type II
Entry term(s) Syndrome de Rutledge Friedman Harrod
Syndrome de Smith-Lemli-Opitz de type 2
Déficit en 7-déhydrocholestérol réductase - Related but not broader or narrower
Concept UI M0536961
Preferred term Déficit en 7-déhydrocholestérol réductase
Syndrome de Smith-Lemli-Opitz de type I - Narrower
Concept UI M0028481
Preferred term Syndrome de Smith-Lemli-Opitz de type I
Entry term(s) Syndrome de Smith-Lemli-Opitz de type 1



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