LOINC
Version 2.73

100424-18(9)-Cholestenol [Mass/volume] in Serum or PlasmaActive

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
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

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

Language Variants Get Info

zh-CNChinese (China)
8(9)-胆甾烯醇:质量浓度:时间点:血清/血浆:定量型:
nl-NLDutch (Netherlands)
8(9)-cholestenol:massa/volume:moment:serum of plasma:kwantitatief:
it-ITItalian (Italy)
8(9) Colestenolo:MCnc:Pt:Siero/Plasma:Qn:
pl-PLPolish (Poland)
8(9)-cholestenol:Stężenie masowe:Punkt w czasie:Surowica lub osocze:ilościowy:
es-ESSpanish (Spain)
8(9)-Colestenol:Concentración de masa:Punto temporal:Suero o Plasma:Qn:
tr-TRTurkish (Turkey)
8(9)-kolestenol:KütlKons:Zmlı:Ser/Plaz:Kant:

Example Units

Unit Source
mg/L Example UCUM Units

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100424-1