Origin of germline genetic variant [Type]   94186-4

LOINC Code


LOINC code94186-4
nameOrigin of germline genetic variant [Type]
descriptionThe source or inheritance of a specific germline variation found in an individual patient. Understanding the source can help determine the significance of a particular variant and its association with different diseases or syndromes. Germline variants are either inherited or de novo. Inherited variants can be maternal, paternal, or a combination of maternal and paternal. De novo variants are those that are not present in parental germline cells, but that arise in the egg or sperm prior to conception or just after the zygote is formed. [PMID: 27894357]
statusACTIVE

Fully-Specified Name

componentOrigin of germline genetic variant
propertyType  =  Type:  The Property Type is used for assays that identify the specific analyte in cases when the baseline presence of the analyte is known.
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.
system^Patient
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.
method

Additional Names

short nameOrigin germline gen var

Basic Attributes

classMOLPATH
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.

History/Usage

first released
last updated2.68
last change typeADD  - added

Related Names

Genetics
Genomic
Heredity
Heritable
Inherited
Molecular pathology
MOLPATH
Nominal
Origin germline gen var
Point in time
Random
Typ

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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