Version 2.78

Part Description

LP186173-3   8(9)-Cholestenol
8(9)-Cholestenol is one of the precursors to cholesterol in the cholesterol biosynthetic pathway. Elevation of 8(9)-cholestenol is the primary marker for X-linked dominant chondrodysplasia punctata 2 (CDPX2), also known as Conradi Hunermann Happle syndrome, a rare disorder associated with abnormal punctate calcification of cartilaginous structures in an asymmetric pattern, scoliosis, congenital hip dislocation, skeletal disease, and characteristic skin lesions. The disorder is usually lethal in affected males and has variable manifestations in affected females. CDPX2 is caused by a mutation in the EDP gene, which encodes cholestenol delta-isomerase, the enzyme that metabolizes 8(9)-cholestenol. PMID: 23798009 Source: Regenstrief LOINC, PMID: 23798009

Fully-Specified Name

Component
8(9)-Cholestenol
Property
MCnc
Time
Pt
System
Ser/Plas
Scale
Qn
Method

Additional Names

Short Name
8(9)-Cholestenol SerPl-mCnc
Display Name
8(9)-Cholestenol [Mass/Vol]
Consumer Name Alpha Get Info
8(9)-Cholestenol, Blood

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.73
Last Updated
Version 2.73
Order vs. Observation
Both

Formula (Readable)

< or = 5.0 mg/L

Member of these Panels

LOINC Long Common Name
75858-1 Sterols panel [Mass/volume] - Serum or Plasma

Member of these Groups Get Info

LOINC Group Group Name
LG51389-1 8(9)-Cholestenol|Pt|Ser/Plas

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) 8(9)-Colestenol:Concentración de masa:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
fr-FR French (France) 8(9)-cholesténol:Masse/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-IT Italian (Italy) 8(9) Colestenolo:MCnc:Pt:Siero/Plasma:Qn:
Synonyms: Chimica Concentrazione di Massa Plasma Punto nel tempo (episodio) Siero Siero o Plasma
nl-NL Dutch (Netherlands) 8(9)-cholestenol:massa/volume:moment:serum of plasma:kwantitatief:
pl-PL Polish (Poland) 8(9)-cholestenol:stężenie masowe:punkt w czasie:surowica lub osocze:ilościowy:
tr-TR Turkish (Turkey) 8(9)-kolestenol:KütlKons:Zmlı:Ser/Plaz:Kant:
zh-CN Chinese (China) 8(9)-胆甾烯醇:质量浓度:时间点:血清/血浆:定量型:
Synonyms: 8(9)-胆甾醇烯醇 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
mg/L 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=100424-1