Version 2.78

Term 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
Source: Regenstrief LOINC

Fully-Specified Name

Component
Origin of germline genetic variant
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Origin germline gen var
Display Name
Origin of germline genetic variant Nom
Consumer Name Alpha Get Info
Origin of germline genetic variant

Example Answer List: LL5489-1

Source: NCBI PubMed
Answer Code Score Answer ID
Maternal LA26320-4
Paternal LA26321-2
De novo LA26807-0
UnknownCopyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) LA4489-6
Parental

Maternal and/or Paternal; should only be used if the specific result cannot be reported.

 LA30680-5

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Origen de la variante genética de la línea germinal:Tipo:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Origen de la variante genética de la línea germinal:Tipo:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Origine du variant génétique de la lignée germinale:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Origine della linea germinale,variante genetica:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
pl-PL Polish (Poland) Pochodzenie wariantu genetycznego linii zarodkowej:typ:punkt w czasie:^pacjent:cecha:
Synonyms: Pochodzenie Pochodzenie wariantu genetycznego linii zarodkowej
zh-CN Chinese (China) 胚系遗传变异起源:类型:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 型 成因;来源 时刻;随机;随意;瞬间 胚系（种系、生殖细胞系、生殖系）遗传变异（遗传性变异、基因变异、传性变型、遗传变异体、基因变异体）起源（来源、源头）

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94186-4