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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

LOINC Names Get Info

Fully-Specified Name
8(9)-Cholestenol:SCnc:Pt:Ser/Plas:Qn:
Long Common Name
8(9)-Cholestenol [Moles/volume] in Serum or Plasma
Short Name
8(9)-Cholestenol SerPl-sCnc
Display Name
8(9)-Cholestenol [Moles/Vol]
Consumer Name Alpha Get Info
8(9)-Cholestenol, Blood

Part Model Get Info

  • Component
    8(9)-Cholestenol
    LP186173-3
    • Analyte
      8(9)-Cholestenol
      LP186173-3
      • Component Numerator
        8(9)-Cholestenol
        LP186173-3
        • Component Numerator Core
          8(9)-Cholestenol
          LP186173-3
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    SCnc
    LP6860-3
  • Time
    Pt
    LP6960-1
  • System
    Ser/Plas
    LP7576-4
    • System Core
      Ser/Plas
      LP7576-4
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.50 (MIN)
Order vs. Observation
Both

Member of these Groups Get Info

LOINC GroupGroup Name
LG51389-18(9)-Cholestenol|Pt|Ser/Plas

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)8(9)-cholestenol:Látková koncentrace:Časový bod:Sérum/plazma:Kvantitativní:
el-GRGreek (Greece)8(9)-Χοληστενόλη:SCnc:Pt:Ορός/Πλάσμα:Qn:
Synonyms: 8(9)-Χοληστενόλη CHEM Pt Qn SCnc Ορός Ορός/Πλάσμα Πλάσμα
es-ESSpanish (Spain)8(9)-Colestenol:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)8 (9) -colestenol:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
fr-FRFrench (France)8(9)-cholesténol:Moles/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-ITItalian (Italy)8(9) Colestenolo:SCnc:Pt:Siero/Plasma:Qn:
Synonyms: Chimica Concentrazione di Sostanza Plasma Punto nel tempo (episodio) Siero Siero o Plasma
nl-NLDutch (Netherlands)8(9)-cholestenol:mol/volume:moment:serum of plasma:kwantitatief:
pl-PLPolish (Poland)8(9)-cholestenol:stężenie molowe:punkt w czasie:surowica lub osocze:ilościowy:
tr-TRTurkish (Turkey)8(9)-kolestenol:SubKons:Zmlı:Ser/Plaz:Kant:
zh-CNChinese (China)8(9)-胆甾烯醇:物质的量浓度:时间点:血清/血浆:定量型:
Synonyms: 8(9)-胆甾醇烯醇 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 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 血清或血浆

Example Units

UnitSource
umol/LExample UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=76022-3