Reference sequence alteration [Identifier]   53045-1

LOINC Code


LOINC code53045-1
nameReference sequence alteration [Identifier]
descriptionHuman Genome Variation Society (HGVS) nomenclature for conveying an alteration to the associated reference sequences used to define the genome as a basis for comparison with actual results.
statusACTIVE

Fully-Specified Name

componentReference sequence alteration
propertyPrid  =  Presence or identity:  Prid stands for “Presence or identity”, is used for assays that detect whether or not an analyte of a particular kind is present, and if it is, to identify the specific analyte.
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleNom  =  Nominal:  Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody.
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameRef sequence alteration

Basic Attributes

classHL7.GENETICS
type1  Laboratory
order vs. observationObservation

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

Member of these Panels

53042-8DNA marker assessed panel
53044-4DNA marker identified panel
53044-4DNA marker identified panel
53044-4DNA marker identified panel
53044-4DNA marker identified panel

History/Usage

first released
last updated2.68
last change typeMIN  - change to field other than name

Related Names

Blood
Genetic
Genetics
Genomic
HL7.GENETICS
Identity or presence
Molecular genetics
MOLPATH.GENERAL
Nominal
PCR
Point in time
Random
Ref Sequence
Ref sequence alteration
RefSeq
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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