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Det sätt begreppsrelationer visas:
Smith-Lemli-Opitz syndrom
Hierarki: | ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom 44 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom 44 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom 44 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom 44 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom 44 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom ∟ ∟ ∟ ∟ ∟ Smith-Lemli-Opitz syndrom |
Anmärkning: | Abnormalities, Multiple (1967-1995)X |
Anmärkning: | 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 |
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 |
historyNote*: | 96
X |
publicMeSHNote*: | 96
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1995-06-05X |
dateEstablished*: | 1996-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | AGSX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Smith-Lemli-Opitzin oireyhtymä (fi) XSmith-Lemli-Opitzin syndrooma (fi, ersatt) SLOS (sv, ersatt) Smith-Lemli-Opitz Syndrome (en) RSH-SLO Syndrome (en, ersatt) RSH Syndrome (en, ersatt) Syndroma Smith-Lemli-Opitz (la-FI, ersatt) |
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