2302-8

Fumarase [Enzymatic activity/volume] in Serum

Active

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:CCnc:Pt:Ser:Qn:
Long Common Name: Fumarase [Enzymatic activity/volume] in Serum
Short Name: Fumarase Ser-cCnc
Display Name: Fumarase (S) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Fumarase, Blood

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
CCnc
LP6789-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Ser
LP7567-3
- System Core
  Ser
  LP7567-3
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 1.0
Last Updated: Version 2.68 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Fumaráza:Katalytická koncentrace:Časový bod:Sérum:Kvantitativní:
el-GR	Greek (Greece)	Φουμαράση:CCnc:Pt:Ορός:Qn: Synonyms: CCnc CHEM Pt Qn Ορός Φουμαράση
es-AR	Spanish (Argentina)	fumarasa:concentración catalítica:punto en el tiempo:suero:cuantitativo:
es-ES	Spanish (Spain)	Fumarasa:Concentración Catalítica:Punto temporal:Suero:Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Fumarasa:Concentración catalítica:Punto temporal:Suero:Cuantitativo:
et-EE	Estonian (Estonia)	Fumaraas:CCnc:Pt:S:Qn: Synonyms: Juhuslik Kvantitatiivne Seerum
fr-CA	French (Canada)	Fumarase:Concentration catalytique:Temps ponctuel:Sérum:Quantitatif:
fr-FR	French (France)	Fumarase:Catalytique/Volume:Ponctuel:Sérum:Numérique:
fr-BE	French (Belgium)	Fumarase:Concentration catalytique:Temps ponctuel:Sérum:Quantitatif:
it-IT	Italian (Italy)	Fumarasi:CCnC:Pt:Siero:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Siero
ko-KR	Korean (Korea, Republic Of)	푸마라제:촉매농도:검사시점:혈청:정량:
nl-NL	Dutch (Netherlands)	fumarase:enzymatische activiteit/volume:moment:serum:kwantitatief:
pl-PL	Polish (Poland)	Fumaraza:stężenie katalityczne:punkt w czasie:surowica:ilościowy:
pt-BR	Portuguese (Brazil)	Fumarase:CCnc:Pt:Soro:Qn: Synonyms: Catalytic Concentration; Point in time; Random; Serum; SR; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Фумараза:КаталКонц:ТчкВрм:Сыв:Колич: Synonyms: Каталитическая концентрация Количественный Сыворотка Точка во времени;Момент
tr-TR	Turkish (Turkey)	Fumaraz:KtlKons:Zmlı:Ser:Kant:
zh-CN	Chinese (China)	延胡索酸酶:催化浓度:时间点:血清:定量型: Synonyms: 催化浓度(单位体积);单位体积内酶的单位数化学;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

Example Units

Unit	Source
U/L	Example UCUM Units

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.