Version 2.80

Status Information

Status
TRIAL

Term Description

This term is used to report the formal name of a complex variant, including the reference sequence and details about the variation. For example, NM_000106.5(CYP2D6):c.[886C>T;457G>C] - Haplotype represents a CYP2D6 gene variant with haplotype nucleotide changes c.886C>T and c.457G>C and the NCBI reference sequence NM_000106.5. [http://www.ncbi.nlm.nih.gov/clinvar/variation/16895/]

Fully-Specified Name

Component
Complex variant name
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Long Common Name
Complex variant name Nominal
Short Name
Comp var name
Display Name
Complex variant name Nom
Consumer Name Alpha Get Info
Complex variant name

Basic Attributes

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

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Όνομα σύνθετης παραλλαγής:Εύρεση:Pt:^Ασθενής:Nom:
Synonyms: Εύρεση Όνομα Όνομα σύνθετης παραλλαγής Σύνθετη παραλλαγή
es-ES Spanish (Spain) Nombre de la variante compleja:Hallazgo:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Nombre de variante complejo:Hallazgo:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Variant complexe nom:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Nome della variante complessa:Osservazione:Pt:^Paziente:Nom:
Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 复杂变异命名:发现: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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 复合体 复杂变异命名（名称）;复杂遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）命名（名称） 复杂遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体） 姓名;名字;名 时刻;随机;随意;瞬间

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81261-0