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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

LOINC Names Get Info

Fully-Specified Name
Origin of germline genetic variant:Type:Pt:^Patient:Nom:
Long Common Name
Origin of germline genetic variant [Type]
Short Name
Origin germline gen var
Display Name
Origin of germline genetic variant Nom
Consumer Name Alpha Get Info
Origin of germline genetic variant

Part Model Get Info

  • Component
    Origin of germline genetic variant
    LP417220-3
    • Analyte
      Origin of germline genetic variant
      LP417220-3
      • Component Numerator
        Origin of germline genetic variant
        LP417220-3
        • Component Numerator Core
          Origin of germline genetic variant
          LP417220-3
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Type
    LP6886-8
  • Time
    Pt
    LP6960-1
  • System
    ^Patient
    LP310005-6
    • System Core
      NULL
       
    • Super System
      Patient
      LP6985-8
  • Scale
    Nom
    LP7750-5
  • Method
    NULL
     

Example Answer List: LL5489-1

Source: NCBI PubMed
AnswerCodeScoreAnswer ID
MaternalLA26320-4
PaternalLA26321-2
De novoLA26807-0
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 (ADD)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Zárodečná linie původ genetické varianty:Typ:Časový bod:^Pacient:Nominální:
el-GRGreek (Greece)Προέλευση της γενετικής παραλλαγής της βλαστικής σειράς:Type:Pt:^Ασθενής:Nom:
Synonyms: - MOLPATH Nom Pt Type Ασθενής Προέλευση Προέλευση της γενετικής παραλλαγής της βλαστικής σειράς
es-ESSpanish (Spain)Origen de la variante genética de la línea germinal:Tipo:Punto temporal:^paciente:Nom:
es-MXSpanish (Mexico)Origen de la variante genética de la línea germinal:Tipo:Punto temporal:^ Paciente:Nominal:
fr-FRFrench (France)Origine du variant génétique de la lignée germinale:Type:Ponctuel:^patient:Résultat nominal:
it-ITItalian (Italy)Origine della linea germinale,variante genetica:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
pl-PLPolish (Poland)Pochodzenie wariantu genetycznego linii zarodkowej:typ:punkt w czasie:^pacjent:skala nominalna:
Synonyms: Pochodzenie Pochodzenie wariantu genetycznego linii zarodkowej wynik kategorialny
zh-CNChinese (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