Origin of germline genetic variant [Type] 94186-4
LOINC Code
| LOINC code | 94186-4 | ||
|---|---|---|---|
| name | Origin of germline genetic variant [Type] | ||
| description | The 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] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Origin of germline genetic variant | ||
| property | Type = Type: The Property Type is used for assays that identify the specific analyte in cases when the baseline presence of the analyte is known. | ||
| time | Pt = 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 | ||
| scale | Nom = 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 name | Origin germline gen var | ||
Basic Attributes | |||
| class | MOLPATH | ||
| type | 1 Laboratory | ||
| order vs. observation | Observation | ||
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 updated | 2.68 | ||
| last change type | ADD - added | ||
Related Names | |||
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