MeSH Browser

MeSH Heading: Smith-Lemli-Opitz Syndrome
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
Unique ID: D019082
RDF Unique Identifier: http://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.
Entry Term(s): 7-Dehydrocholesterol Reductase Deficiency; Hyperotosis Corticalis Generalisata Familiaris; Lethal Acrodysgenital Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung; RSH Syndrome; RSH-SLO Syndrome; Rutledge Friedman Harrod Syndrome; Rutledge Lethal Multiple Congenital Anomaly Syndrome; SLO Syndrome; 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
Previous Indexing: Abnormalities, Multiple (1967-1995)
Public MeSH Note: 1996
History Note: 1996
Date Established: 1996/01/01
Date of Entry: 1995/06/05
Revision Date: 2021/06/30

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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.
Terms: Smith-Lemli-Opitz Syndrome Preferred Term
Term UI T056984
Date01/01/1999
LexicalTag EPO
ThesaurusID; RSH-SLO Syndrome
Term UI T056985
Date02/24/1995
LexicalTag NON
ThesaurusID; Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
Term UI T812071
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Hyperotosis Corticalis Generalisata Familiaris
Term UI T842474
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014); RSH Syndrome
Term UI T843958
Date05/10/2013
LexicalTag ABX
ThesaurusID GHR (2014); SLO Syndrome
Term UI T843959
Date05/10/2013
LexicalTag ABX
ThesaurusID GHR (2014)

Smith-Lemli-Opitz Syndrome MeSH Descriptor Data 2025