LOINC
Version 2.73

56535-88-Dehydrocholesterol [Moles/volume] in Serum or PlasmaActive

Part Description

LP32687-3   8-Dehydrocholesterol
8-Dehydrocholesterol (8-DHC) elevated concentration is one of the diagnostic biochemical hallmarks of classical Smith-Lemli-Opitz syndrome (SLOS) . Plasma 8-DHC could be only marginally elevated. (PMID: 16435228) Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis (caused by a deficit of 3beta-hydroxysterol-Delta7 reductase). Affected children often have malformations and mental retardation. Autistic behaviors also are evident. In children, the baseline cholesterol, 8-DHC levels, and cholesterol levels following supplementation does not correlate with the presence or severity of autistic symptoms. [PMID:16761297] Accumulation of 8-dehydrocholesterol in Amniotic fluid is diagnostic for SLOS. [PMID:16231320] Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, 8-Dehydrocholesterol

Fully-Specified Name

Component
8-Dehydrocholesterol
Property
SCnc
Time
Pt
System
Ser/Plas
Scale
Qn
Method

Additional Names

Short Name
8-DHC SerPl-sCnc
Display Name
8-Dehydrocholesterol [Moles/Vol]
Consumer Name Alpha
8-Dehydrocholesterol, Blood

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
73852-6 7-Dehydrocholesterol and 8-Dehydrocholesterol panel - Serum or Plasma
74888-9 Sterols panel [Moles/volume] - Serum or Plasma

Member of these Groups

LG42097-2 8-Dehydrocholesterol|Pt|Ser/Plas

Language Variants Get Info

zh-CNChinese (China)
8-脱氢胆固醇:物质的量浓度:时间点:血清/血浆:定量型:
nl-NLDutch (Netherlands)
8-dehydrocholesterol:mol/volume:moment:serum of plasma:kwantitatief:
et-EEEstonian (Estonia)
8-dehüdrokolesterool:SCnc:Pt:S/P:Qn:
fr-BEFrench (Belgium)
8-Dehydrocholestérol:Concentration de substance:Temps ponctuel:Sérum/Plasma:Quantitatif:
fr-FRFrench (France)
8-déhydrocholestérol:Moles/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-ITItalian (Italy)
8-Deidrocolesterolo:SCnc:Pt:Siero/Plasma:Qn:
pl-PLPolish (Poland)
8-dehydrocholesterol:Stężenie substancji:Punkt w czasie:Surowica lub osocze:ilościowy:
pt-BRPortuguese (Brazil)
8-Dehidrocolesterol:#N/A:Pt:Sor/Plas:Qn:
ru-RURussian (Russian Federation)
8-Дегидрохолестерол:МолКонц:ТчкВрм:Сыв/Плаз:Колич:
es-MXSpanish (Mexico)
8-deshidrocolesterol:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
es-ESSpanish (Spain)
8-Dehidrocolesterol:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:
tr-TRTurkish (Turkey)
8-Dehidrokolesterol:SubKons:Zmlı:Ser/Plaz:Kant:

Example Units

Unit Source
umol/L Example UCUM Units

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=56535-8