LOINC
Version 2.71

81252-9Discrete genetic variantTrial

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
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

zh-CNChinese (China)
简单变异:标识符:时间点:^患者:名义型:
fr-FRFrench (France)
Variant simple:Identifiant:Ponctuel:Patient:Résultat nominal:
it-ITItalian (Italy)
Variante semplice:ID:Pt:^Paziente:Nom:
es-ESSpanish (Spain)
Variante simple:Código identificador:Punto temporal:^paciente:Nom:

LOINC FHIR® API Example - CodeSystem Request Get Info

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