Version 2.78

Term Description

This test is based on sequencing and targeted analysis of specific variants . The testing depends largely upon the individual's ethnic background. A negative result may indicate a reduced carrier risk for some or all diseases being tested, this risk cannot be eliminated.
Source: Regenstrief LOINC

Fully-Specified Name

Component
SMA residual risk
Property
Imp
Time
Pt
System
Bld
Scale
Nar
Method
Molgen

Additional Names

Short Name
SMA residual risk Bld-Imp
Display Name
SMA residual risk Molgen Nar (Bld) [Interp]
Consumer Name Alpha Get Info
Interpretation of SMA residual risk test result, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.74
Last Updated
Version 2.75
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo residual SMA:Impresión/interpretación del estudio:Punto temporal:Sangre:Narrativo:Genética molecular
fr-FR French (France) SMA risque résiduel:Interprétation:Ponctuel:Sang:Résultat textuel:Biologie moléculaire
it-IT Italian (Italy) SMA, rischio residuo:Imp:Pt:Sangue:Nar:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Mutazione genica Patologia molecolare Punto nel tempo (episodio) Rischio residuo di SMA Sangue
zh-CN Chinese (China) SMA 残余风险:印象:时间点:全血:叙述型:分子遗传学类实验室方法
Synonyms: SMA（脊髓性肌萎缩、脊髓性肌萎缩症、脊髓性肌肉萎缩症、Spinal muscular atrophy）残余风险（剩余风险、余值风险、残存风险） 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 时刻;随机;随意;瞬间 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=101538-7