Version 2.78

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 Get Info
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 Get Info

LOINC Group Group Name
LG42097-2 8-Dehydrocholesterol|Pt|Ser/Plas

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) 8-dehidrocolesterol:concentración de masa:punto en el tiempo:suero/plasma:cuantitativo:
es-ES Spanish (Spain) 8-Dehidrocolesterol:Concentración de masa:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) 8-deshidrocolesterol:Concentración de masa:Punto temporal:Suero o Plasma:Cuantitativo:
et-EE Estonian (Estonia) 8-dehüdrokolesterool:MCnc:Pt:S/P:Qn:
Synonyms: Juhuslik Kvantitatiivne Plasma Seerum Seerum või plasma
fr-FR French (France) 8-déhydrocholestérol:Masse/Volume:Ponctuel:Sérum/Plasma:Numérique:
fr-BE French (Belgium) 8-Dehydrocholestérol:Concentration de masse:Temps ponctuel:Sérum/Plasma:Quantitatif:
fr-CA French (Canada) 8-déhydrocholestérol:Concentration de masse:Temps ponctuel:Sérum/Plasma:Quantitatif:
it-IT Italian (Italy) 8-Deidrocolesterolo:MCnc:Pt:Siero/Plasma:Qn:
Synonyms: Chimica Concentrazione di Massa Plasma Punto nel tempo (episodio) Siero Siero o Plasma
ko-KR Korean (Korea, Republic Of) 8-디하이드로콜레스테롤:질량농도:검사시점:혈청/혈장:정량:
nl-NL Dutch (Netherlands) 8-dehydrocholesterol:massa/volume:moment:serum of plasma:kwantitatief:
pl-PL Polish (Poland) 8-dehydrocholesterol:stężenie masowe:punkt w czasie:surowica lub osocze:ilościowy:
pt-BR Portuguese (Brazil) 8-Dehidrocolesterol:MCnc:Pt:Sor/Plas:Qn:
Synonyms: ; 8Dehydrocholesterol; Mass concentration; Level; Point in time; Random; SerPl; SerPlas; SerP; Serum; SR; Plasma; Pl; Plsm; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU Russian (Russian Federation) 8-Дегидрохолестерол:МассКонц:ТчкВрм:Сыв/Плаз:Колич:
Synonyms: Количественный Массовая концентрация Плазма Сыворотка Сыворотка или Плазма Точка во времени;Момент
tr-TR Turkish (Turkey) 8-Dehidrokolesterol:KütlKons:Zmlı:Ser/Plaz:Kant:
zh-CN Chinese (China) 8-脱氢胆固醇:质量浓度:时间点:血清/血浆:定量型:
Synonyms: 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 水平;浓度;质量浓度(单位体积) 血清或血浆

Example Units

Unit Source
ng/mL Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

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