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The way concept relations are shown:
Smith-Lemli-Opitz Syndrome
Hierarchy: | ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome 44 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome 44 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome 44 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome 44 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome 44 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz Syndrome |
Annotation: | the syndrome is named for the authors first describing it, the X ref RSH SYNDROME refers to the initials of the surnames of the first 3 patients
X |
History note: | Abnormalities, Multiple (1967-1995)X |
historyNote*: | 96
X |
publicMeSHNote*: | 96
X |
Scope note: | An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase (DHCR7), 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 MENTAL RETARDATION.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1995-06-05X |
dateEstablished*: | 1996-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | AGSX |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Smith-Lemli-Opitzin oireyhtymä (fi) XRSH-SLO Syndrome (en, replaced) RSH Syndrome (en, replaced) Síndrome de Smith-Lemli-Opitz (es) Smith-Lemli-Opitz-Syndrom (de) Smithův-Lemliův-Opitzův syndrom (cs) Síndrome RSH (es, replaced) Smith-Lemli-Opitz-Syndrom, Type II (de, replaced) SLO-Syndrom (de, replaced) Smith-Lemli-Opitz-Syndrom, Typ I (de, replaced) RSH-Syndrom (de, replaced) |
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