| Descriptor English: | Smith-Lemli-Opitz Syndrome | ||||
| Descriptor Spanish: |
Síndrome de Smith-Lemli-Opitz
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| 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 |
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| 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 |
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| 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. |
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| 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 |
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| Previous Indexing: |
Abnormalities, Multiple (1967-1995) |
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| Public MeSH Note: | 1996 |
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| History Note: | 1996 |
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| 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 |
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Smith-Lemli-Opitz Syndrome
- Preferred
Smith-Lemli-Opitz Syndrome, Type II
- Narrower
7-Dehydrocholesterol Reductase Deficiency
- Related but not broader or narrower
Smith-Lemli-Opitz Syndrome, Type I
- Narrower
| 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 |
| 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 |
| 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 |
| 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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