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Descriptor English: Smith-Lemli-Opitz Syndrome
Descriptor Spanish: Síndrome de Smith-Lemli-Opitz
Descriptor Portuguese: Síndrome de Smith-Lemli-Opitz
Descriptor French: Syndrome de Smith-Lemli-Optiz
Entry term(s): 7-Dehydrocholesterol Reductase Deficiencies
7-Dehydrocholesterol Reductase Deficiency
Acrodysgenital Syndrome, Lethal
Acrodysgenital Syndromes, Lethal
Deficiencies, 7-Dehydrocholesterol Reductase
Deficiency, 7-Dehydrocholesterol Reductase
Hyperotosis Corticalis Generalisata Familiaris
Lethal Acrodysgenital Syndrome
Lethal Acrodysgenital Syndromes
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
RSH SLO Syndrome
RSH Syndrome
RSH Syndromes
RSH-SLO Syndrome
RSH-SLO Syndromes
Reductase Deficiencies, 7-Dehydrocholesterol
Reductase Deficiency, 7-Dehydrocholesterol
Rutledge Friedman Harrod Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome
SLO Syndrome
SLO Syndromes
Smith Lemli Opitz Syndrome
Smith Lemli Opitz Syndrome, Type 2
Smith Lemli Opitz Syndrome, Type I
Smith Lemli Opitz Syndrome, Type II
Smith Lemli Opitz syndrome, type 1
Smith-Lemli-Opitz Syndrome, Type 1
Smith-Lemli-Opitz Syndrome, Type 2
Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type II
Syndrome, Lethal Acrodysgenital
Syndrome, RSH
Syndrome, SLO
Syndromes, RSH
Syndromes, SLO
Tree number(s): C16.131.077.860
C16.320.565.398.850
C16.320.565.925.875
C18.452.584.500.937
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 blood
CF cerebrospinal fluid
CI chemically induced
CL classification
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
Previous Indexing: Abnormalities, Multiple (1967-1995)
Public MeSH Note: 1996
History Note: 1996
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
Smith-Lemli-Opitz Syndrome - Preferred
Concept UI M0028480
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.
Preferred term Smith-Lemli-Opitz Syndrome
Entry term(s) Hyperotosis Corticalis Generalisata Familiaris
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
RSH SLO Syndrome
RSH Syndrome
RSH Syndromes
RSH-SLO Syndrome
RSH-SLO Syndromes
SLO Syndrome
SLO Syndromes
Smith Lemli Opitz Syndrome
Syndrome, RSH
Syndrome, SLO
Syndromes, RSH
Syndromes, SLO
Smith-Lemli-Opitz Syndrome, Type II - Narrower
Concept UI M0028482
Preferred term Smith-Lemli-Opitz Syndrome, Type II
Entry term(s) Acrodysgenital Syndrome, Lethal
Acrodysgenital Syndromes, Lethal
Lethal Acrodysgenital Syndrome
Lethal Acrodysgenital Syndromes
Rutledge Friedman Harrod Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome
Smith Lemli Opitz Syndrome, Type 2
Smith Lemli Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type 2
Syndrome, Lethal Acrodysgenital
7-Dehydrocholesterol Reductase Deficiency - Related but not broader or narrower
Concept UI M0536961
Preferred term 7-Dehydrocholesterol Reductase Deficiency
Entry term(s) 7-Dehydrocholesterol Reductase Deficiencies
Deficiencies, 7-Dehydrocholesterol Reductase
Deficiency, 7-Dehydrocholesterol Reductase
Reductase Deficiencies, 7-Dehydrocholesterol
Reductase Deficiency, 7-Dehydrocholesterol
Smith-Lemli-Opitz Syndrome, Type I - Narrower
Concept UI M0028481
Preferred term Smith-Lemli-Opitz Syndrome, Type I
Entry term(s) Smith Lemli Opitz Syndrome, Type I
Smith Lemli Opitz syndrome, type 1
Smith-Lemli-Opitz Syndrome, Type 1



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