Origin of germline genetic variant:Type:Pt: Patient:Nom:

Preferred Label : Origin of germline genetic variant:Type:Pt: Patient:Nom:;

LOINC status : ACTIVE;

LOINC display name : Origin of germline genetic variant Nom;

LOINC long common name : Origin of germline genetic variant [Type];

LOINC short name : Origin germline gen var;

LOINC 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];

Details

Origin ID

94186-4;

UMLS CUI

C5381111;

Has component
- Origin [LOINC component]
- Origin of germline genetic variant [LOINC component]
Has property
- Type [LOINC Property]
Has scale
- Nom [LOINC scale]
Has system
- Patient [LOINC System]
- ^Patient [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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