Version 2.78

Status Information

Status
TRIAL

Term Description

This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.
Source: Regenstrief LOINC

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
81250-3 Discrete genetic variant panel 0..n
Indent83005-9 Variant category
Indent81252-9 Discrete genetic variant C 0..1
Indent48018-6 Gene studied [ID] C 0..1
Indent51958-7 Transcript reference sequence [ID] C 0..1
Indent48004-6 DNA change (c.HGVS) C 0..1
Indent48005-3 Amino acid change (pHGVS) C 0..1
Indent48019-4 DNA change type O 0..1
Indent48006-1 Amino acid change [Type] O 0..1
Indent48013-7 Genomic reference sequence [ID] C 0..1
Indent81290-9 Genomic DNA change (gHGVS) C
Indent69547-8 Genomic ref allele [ID] C 0..1
Indent81254-5 Genomic allele start-end C 0..1
Indent69551-0 Genomic alt allele [ID] C 0..1
Indent84414-2 Haplotype name O
Indent81255-2 dbSNP [ID] O 0..1
Indent81257-8 CIGAR [ID] O 0..1
Indent48001-2 Cytogenetic (chromosome) location O 0..1
Indent48002-0 Genomic source class [Type] O 0..1
Indent81304-8 Variant analysis method [Type] O
Indent53037-8 Genetic variation clinical significance [Imp] O 0..1
Indent69548-6 Genetic variant assessment O
Indent81259-4 Associated phenotype O 0..1
Indent53034-5 Allelic state C 0..1
Indent81258-6 Sample variant allelic frequency [NFr] O 0..1 %
Indent82121-5 Allelic read depth O 0..1 {#}
Indent82120-7 Allelic phase O 0..1
Indent82309-6 Basis for allelic phase [Type] O

Question Cardinality

0..n

Fully-Specified Name

Component
Simple variant panel
Property
-
Time
Pt
System
^Patient
Scale
-
Method

Additional Names

Short Name
Simple var pnl
Display Name
Simple variant panel
Consumer Name Alpha Get Info
Simple variant panel

Basic Attributes

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

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) Panel de variante simple:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
es-MX Spanish (Mexico) Panel de variante simple:-:Punto temporal:^ Paciente:-:
fr-FR French (France) Variant simple panel:-:Ponctuel:Patient:-:
it-IT Italian (Italy) Variante semplice panel:-:Pt:^Paziente:-:
Synonyms: Panel variante semplice Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 简单变异组套:-:时间点:^患者:-:
Synonyms: 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 简单变异组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;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）组套 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） 组 组合 组合医嘱 组合类 组套

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81250-3
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/81250-3