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Part Description

LP15582-7   Fumarase
Fumarase deficiency is characterized by polyhydramnios and fetal brain abnormalities. In the newborn period, findings include severe neurologic abnormalities, poor feeding, failure to thrive, and hypotonia. Mutations in the production and development of fumarase have led to the discovery of several fumarase-related diseases in humans. These include benign mesenchymal tumors of the uterus, leiomyomatosis and renal cell carcinoma, and fumarase deficiency. Germinal mutations in fumarase are associated with two distinct conditions. If the enzyme has missense mutation and in-frame deletions from the 3' end, fumarase deficiency results. If it contains heterozygous 5' missense mutation and deletions (ranging from one base pair to the whole gene), then leiomyomatosis and renal cell carcinoma/Reed's syndrome (multiple cutaneous and uterine leiomyomatosis) could result. Source: Regenstrief LOINC, Wikipedia

LOINC Names Get Info

Fully-Specified Name
Fumarase:CCnt:Pt:Fibroblasts:Qn:
Long Common Name
Fumarase [Enzymatic activity/mass] in Fibroblast
Short Name
Fumarase Fib-cCnt
Display Name
Fumarase (Fibroblast) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
Fumarase, Fibroblast

Part Model Get Info

  • Component
    Fumarase
    LP15582-7
    • Analyte
      Fumarase
      LP15582-7
      • Component Numerator
        Fumarase
        LP15582-7
        • Component Numerator Core
          Fumarase
          LP15582-7
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    CCnt
    LP6790-2
  • Time
    Pt
    LP6960-1
  • System
    Fibroblasts
    LP7234-0
    • System Core
      Fibroblasts
      LP7234-0
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.48
Last Updated
Version 2.48 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Fumaráza:Katalytický obsah:Časový bod:Fibroblast:Kvantitativní:
el-GRGreek (Greece)Φουμαράση:CCnt:Pt:Ινοβλάστες:Qn:
Synonyms: CCnt CHEM Pt Qn Ινοβλάστες Φουμαράση
es-ESSpanish (Spain)Fumarasa:Contenido catalítico:Punto temporal:Fibroblastos:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Fumarasa:Contenido catalítico:Punto temporal:Fibroblasto:Cuantitativo:
fr-CAFrench (Canada)Fumarase:Contenu catalytique:Temps ponctuel:Fibroblastes:Quantitatif:
fr-FRFrench (France)Fumarase:Catalytique/Masse:Ponctuel:Fibroblastes:Numérique:
fr-BEFrench (Belgium)Fumarase:Contenu catalytique:Temps ponctuel:Fibroblastes:Quantitatif:
it-ITItalian (Italy)Fumarasi:CCnt:Pt:Fibroblasti:Qn:
Synonyms: Chimica Contenuto Catalitico Fibroblasto Punto nel tempo (episodio)
nl-NLDutch (Netherlands)fumarase:enzymatische activiteit/massa:moment:fibroblast:kwantitatief:
pl-PLPolish (Poland)Fumaraza:zawartość katalityczna:punkt w czasie:fibroblasty:ilościowy:
ru-RURussian (Russian Federation)Фумараза:КаталСод:ТчкВрм:Фибробласты:Колич:
Synonyms: Каталитическое содержание Количественный Точка во времени;Момент
tr-TRTurkish (Turkey)Fumaraz:Ktlİçrk:Zmlı:Fibroblastlar:Kant:
zh-CNChinese (China)延胡索酸酶:催化含量:时间点:成纤维细胞:定量型:
Synonyms: 催化含量(单位质量);单位质量的酶单位数 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 反丁烯二酸酶;富马酶;富马酸酶;延胡酸酶 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 纤维原细胞;纤维母细胞

Example Units

UnitSource
nmol/min/mg{protein}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=74581-0