LOINC
Version 2.73

34671-88-Dehydrocholesterol [Mass/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
MCnc
Time
Pt
System
Ser/Plas
Scale
Qn
Method

Additional Names

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.11
Last Updated
Version 2.44
Order vs. Observation
Both

Member of these Groups

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

Language Variants Get Info

zh-CNChinese (China)
8-脱氢胆固醇:质量浓度:时间点:血清/血浆:定量型:
nl-NLDutch (Netherlands)
8-dehydrocholesterol:massa/volume:moment:serum of plasma:kwantitatief:
et-EEEstonian (Estonia)
8-dehüdrokolesterool:MCnc:Pt:S/P:Qn:
fr-BEFrench (Belgium)
8-Dehydrocholestérol:Concentration de masse:Temps ponctuel:Sérum/Plasma:Quantitatif:
fr-FRFrench (France)
8-déhydrocholestérol:Masse/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-ITItalian (Italy)
8-Deidrocolesterolo:MCnc:Pt:Siero/Plasma:Qn:
ko-KRKorean (Korea, Republic of)
8-디하이드로콜레스테롤:질량농도:검사시점:혈청/혈장:정량:
pl-PLPolish (Poland)
8-dehydrocholesterol:Stężenie masowe:Punkt w czasie:Surowica lub osocze:ilościowy:
pt-BRPortuguese (Brazil)
8-Dehidrocolesterol:MCnc:Pt:Sor/Plas:Qn:
ru-RURussian (Russian Federation)
8-Дегидрохолестерол:МассКонц:ТчкВрм:Сыв/Плаз:Колич:
es-ARSpanish (Argentina)
8-dehidrocolesterol:concentración de masa:punto en el tiempo:suero/plasma:cuantitativo:
es-MXSpanish (Mexico)
8-deshidrocolesterol:Concentración de masa:Punto temporal:Suero o Plasma:Cuantitativo:
es-ESSpanish (Spain)
8-Dehidrocolesterol:Concentración de masa:Punto temporal:Suero o Plasma:Qn:
tr-TRTurkish (Turkey)
8-Dehidrokolesterol:KütlKons:Zmlı:Ser/Plaz:Kant:

Example Units

Unit Source
ng/mL Example UCUM Units

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=34671-8