Version 2.78

Status Information

Status
TRIAL

Term Description

This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Fully-Specified Name

Component
Simple variant
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Simple var ID
Display Name
Simple variant Nom [ID]
Consumer Name Alpha Get Info
Simple variant

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Variante simple:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Variante simple:Identificador:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Variant simple:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante semplice:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 简单变异:标识符:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 简单遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81252-9