Version 2.77

81306-3 Variables that apply to the overall study

Fully-Specified Name

Component
Variables that apply to the overall study
Property
-
Time
Pt
System
^Patient
Scale
-
Method

Additional Names

Short Name
Overall study variables type
Display Name
Variables that apply to the overall study
Consumer Name Alpha Get Info
Variables that apply to the overall study

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.61
Change Reason
Changed Property from "Type" and Scale from "Nom" to align with the current model for naming panels in LOINC.
Order vs. Observation
Observation
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variables que se aplican al estudio general:-:Punto temporal:^ Paciente:-:
es-ES Spanish (Spain) Variables que se aplican al estudio general:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
fr-FR French (France) Variables s'appliquant à l'étude globale:-:Ponctuel:Patient:-:
it-IT Italian (Italy) Variabili applicate allo studio complessivo:-:Pt:^Paziente:-:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 适用于整个检查的变量指标:-:时间点:^患者:-:
Synonyms: 全面;整体;总体情况 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检查分析 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 研究;检查项目;调查;考察;研究项目;学习 组 组合 组合医嘱 组合类 组套 考察 调查 适用于整个(完整)检查的变量指标(变量、指标、观测指标、观察指标、项目)

53577-3 Reason for study

Term Description

The freeform text that is entered by the ordering provider to further annotate the coded Reason for Study [LOINC: 51967-8] associated with an ordered test. In HL7 v2 messages, OBR-31 should be used to report the reason for study.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Reason for study additional note
Property
Txt
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
Molgen

Additional Names

Short Name
Reason for study
Display Name
Reason for study additional note Molgen Nar (Bld/Tiss)
Consumer Name Alpha Get Info
Reason for study additional note, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Both
Common Test Rank Get Info
12562

HL7® Attributes

HL7® Field ID
OBR-31

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Razón del estudio nota adicional:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-ES Spanish (Spain) Razón para el estudio de notas complementarias:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
fr-FR French (France) Contexte de l'étude note complémentaire:Texte:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-IT Italian (Italy) Motivo di ulteriore approfondimento:Txt:Pt:Sangue/Tess:Nar:Molgen
Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Testo
nl-NL Dutch (Netherlands) reden voor onderzoek aanvullende aantekening:tekst:moment:bloed of weefsel:tekstueel:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Apontamentos da razão de estudo adicional:Txt:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Text; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Add; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Причина исследования дополнительная запись:Txt:ТчкВрм:Кр/Тк:Опис:МолГен
Synonyms: Кровь Кровь или Ткань Мотивировка исследования;Обоснование исследования Описательный Текст Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Sebep ek not çalışma için:Metin:Zmlı:Kan/Dk:Öykü:Molgen
zh-CN Chinese (China) 关于检查的原因 附加记录:文本型属性:时间点:全血/组织:叙述型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 关于检查的理由 附加记录;检查原因附加记录;检查理由附加记录 关于检查的理由;检查原因;检查理由 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 文本;文本型;文本属性 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检查分析 研究;检查项目;调查;考察;研究项目;学习 笔记;按语;注释;说明;票据;单据;证明书 考察 血;血液 调查 附加的 额外 额外的

51967-8 Genetic disease assessed [ID]

Term Description

Coded identifier of the disorder being assessed but with exception to allow the recording of something not included in the controlled vocabulary that is being used. Various coding systems may be used, including ICD-9-CM, ICD-10-CM, SCT and NCBI MedGen.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic disease assessed
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis assessed
Display Name
Genetic disease assessed Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genetic disease assessed, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
81247-9 Master HL7 genetic variant reporting panel
74028-2 Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Enfermedad genética evaluada:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Valoracion de enfermedades geneticas:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique étudiée:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica valutata:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische ziekte onderzocht:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Doenças genéticas avaliadas:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene dis assessed; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетические заболевания исследование:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık değerlendirilmiş:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 已评估的遗传性疾病:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 已评估(评价)的遗传性疾病(遗传疾病、遗传病、基因疾病) 所评估(所评价、已评估、已评价)的疾病(疾、病、疾患) 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 疾 病 症 血;血液

51963-7 Medication assessed [ID]

Term Description

A coded medication assessed in a pharmacogenic test (recommend RxNorm)
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Medication assessed
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Medication assessed
Display Name
Medication assessed Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Medication assessed, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Medicación evaluada:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Medicacion evaluada:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Médication étudiée:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Farmaco valutato:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Medicação avaliada:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Лекарственное лечение оценка:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Nedikasyon değerlendirilmiş:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 已评估的药物:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 处理用药;处理用药物;处理药物;治疗用药;治疗用药物;用药;药物处理;药物治疗;治疗药物 所评估的药物;已评价的药物 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 血;血液

48018-6 Gene studied [ID]

Term Description

HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Gene identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Gene studied ID
Display Name
Gene studied Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Gene studied, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
9796

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
102118-7 Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method
102119-5 Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method
74028-2 Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de gen estudiado:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador genético:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Gène identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Gene, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) gen-identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificação do gene:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Ген идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gen tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 基因标识;基因 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 遗传基因;遗传因子;吉恩;生物基因

36908-2 Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

Term Description

For targeted mutation analysis, report the discrete mutations the study is designed to detect. In HL7 V2 they can be reported in one observation as a list separated by repeat delimiters OR as a series of separate OBX segments, one per mutation tested for. In FHIR, multiple coded entries can not be reported as a list in one observation value field. They must be reported as the values of separate observations.
Source: Regenstrief LOINC

Condition for Inclusion

Either the mutations tested or the range(s) of DNA sequences examined (as structured or narrative data) should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene Mut Tested Bld/T
Display Name
Gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Gene variants tested for, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.73
Change Reason
Changed Component from "Gene XXX mutations tested for" to "Gene mutations tested for" to make it more clear that the mutations tested for are the subject of this concept rather than the gene, and removing "XXX" does not change the meaning of this term.
Order vs. Observation
Observation
Common Test Rank Get Info
7918

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Mutaciones genéticas probadas:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-AR Spanish (Argentina) gen XXX:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:genética molecular
es-ES Spanish (Spain) Gen Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Gene , mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR Korean (Korea, Republic Of) 유전자 XXX 돌연변이 검사용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Gene XXX teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
tr-TR Turkish (Turkey) Gen mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 基因 已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 遗传基因;遗传因子;吉恩;生物基因

51959-5 Range(s) of DNA sequence examined

Term Description

This term is used to report the region(s) of interest for sequencing studies as one or more numeric ranges that identify the parts of the reference sequence that are sequenced. These can be recorded as one or more HL7 numeric ranges using repeat delimiters to seperate multiple such ranges. They can also be recorded singly, one per OBX, using OBX-4 to distinguish these repeats with the same Observation ID. However, such detailed specification of the sequencing region of interest is rare, in part because this information is often proprietary, and the region of interest is reported as a text description instead, e.g., "Sequenced all of the coding, and appropriate flanking regions," using [LOINC: 81293-3].
Source: Regenstrief LOINC

Condition for Inclusion

Either the mutations tested or the range(s) of DNA sequences examined (as structured or narrative data) should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component
DNA region of interest
Property
NumRange
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA region of interest NumRange
Display Name
DNA region of interest Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA region of interest, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58
Change Reason
Changed Property from ID to NumRange to clarify the meaning of the concept as the range(s) of DNA sequences examined.; Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Región de ADN de interés:NumRange:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Region de interes del ADN:Rango numérico:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) ADN région d'intérêt:Numéro de lot:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, regione di interesse:NumRange:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Regione di interesse del DNA Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) DNA região de interesse:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; ROI; Deoxyribonucleic acid; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 兴趣区域:数值范围:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 兴趣 DNA 区域;感兴趣 DNA 区域;感兴趣的 DNA 区域;DNA ROI;DNA region of interest 兴趣区;Region of interest;ROI 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 区;地区;局部 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 数值(数值型、数目、编号)范围(值域、区间、界限);数值型范围;数目范围;编号范围 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

81293-3 Description of ranges of DNA sequences examined

Term Description

This term is used to report a narrative description of the range(s) of DNA sequences examined in this sequencing study. Genetic test reports only rarely include explicit numeric ranges (which would be reported using [LOINC: 51959-5]) beause they are often proprietary, and more often describe the regions examined in narrative. For example, "all coding regions and appropriate flanking regions." To report the region of interest (e.g., in terms of introns and exons) rather than the specific DNA sequences examined, [LOINC: 47999-8] may be used.
Source: Regenstrief LOINC

Condition for Inclusion

Either the mutations tested or the range(s) of DNA sequences examined (as structured or narrative data) should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Range(s) of DNA sequences examined
Property
Txt
Time
Pt
System
^Patient
Scale
Nar
Method

Additional Names

Short Name
DNA range(s) examined Nar
Display Name
Range(s) of DNA sequences examined Nar
Consumer Name Alpha Get Info
Range(s) of DNA Sequences Examined

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Rango (s) de secuencias de ADN examinadas:Texto:Punto temporal:^ Paciente:Narrativo:
es-ES Spanish (Spain) Rango (s) de secuencias de ADN examinadas:Texto:Punto temporal:^paciente:Narrativo:
fr-FR French (France) ADN séquences examinés:Texte:Ponctuel:Patient:Résultat textuel:
it-IT Italian (Italy) Range(s) delle sequenze di DNA esaminato:Txt:Pt:^Paziente:Nar:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) Testo
zh-CN Chinese (China) 所检查 DNA 序列范围:文本型属性:时间点:^患者:叙述型:
Synonyms: DNA 序列检查范围;所检查(已检查、所检查的、已检查的) DNA 序列范围 S 型 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 文本;文本型;文本属性 时刻;随机;随意;瞬间

51968-6 Discrete variation analysis overall interpretation

Term Description

Interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall. This is used for Symptomatic or Asymptomatic testing other than Carrier testing.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
Genetic disease analysis overall interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis anl interp-Imp
Display Name
Genetic disease analysis overall interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease analysis overall interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
8725

Preferred Answer List LL541-4

Answer Code Score Answer ID
Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Failure LA9664-9

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación general del análisis de enfermedades genéticas:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Interpretación general del análisis en la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique interprétation globale:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica, interpretazione generale analisi:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione generale di analisi di malattia ge Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Doenças genéticas análise total interpretação:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis anal interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетические заболевания анализ общая интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık analizi tüm yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传性疾病分析总体解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 全面;整体;总体情况 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 疾病(疾、病、疾患)分析总体(整体、宏观、大体、概括)解释(说明、阐释、诠释) 病 症 血;血液 遗传性疾病(遗传疾病、遗传病、基因疾病)分析总体(整体、宏观、大体、概括)解释(说明、阐释、诠释)

83006-7 Deletion-duplication overall interpretation

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Deletion-duplication overall interpretation
Property
Imp
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Del-dup interp Patient-Imp
Display Name
Del-dup [Interp]
Consumer Name Alpha Get Info
Del-dup

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4166-6

Answer Code Score Answer ID
No deletion or duplication detected in studied region LA26803-9
Deletion and/or duplication detected in studied regions LA26804-7
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación general de supresión-duplicación:Impresión / interpretación del estudio:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Interpretación general de deleción-duplicación:Impresión/interpretación del estudio:Punto temporal:^paciente:Nom:
fr-FR French (France) Délétion-duplication interprétation globale:Interprétation:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Delezione-duplicazione, interpretazione complessiva:Imp:Pt:^Paziente:Nom:
Synonyms: Delezione o duplicazione genica Impressione/interpretazione di studio Interpretazione complessiva di delezione-duplicazi Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 缺失-重复总体解释:印象:时间点:^患者:名义型:
Synonyms: 全面;整体;总体情况 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 判读;解释说明;说明;释义;阐明 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 基因缺失(基因缺失、缺损、基因缺损、基因删除、删除、基因丢失)-重复(基因重复)总体(整体、宏观、大体、概括)解释(说明、阐释、诠释) 时刻;随机;随意;瞬间

51969-4 Genetic analysis report

Term Description

Narative report in disease diagnostic-based format.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic analysis summary report
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
Gene analysis narr rpt Doc
Display Name
Genetic analysis narrative report Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic analysis narrative report, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
3738

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Informe resumido del análisis genético:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
es-ES Spanish (Spain) Informe de enfemedades genéticas:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) Compte rendu de génétique:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) Analisi genetica, referto generale:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto Referto clinico di test genetico Referto generale di analisi genetica Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische analyse beknopt report:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Relatório sumário de análise genética:Achado:Pt:Sg/Tecido:Doc:Genética molecular
Synonyms: ; Gene anal sum rept; Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетический анализ краткие сведения отчёт:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik analizi summary report:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) 遗传分析摘要报告:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 报道;汇报;调查报告;报表;报导 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传学分析摘要报告;遗传分析概括报告;遗传分析小结报告;遗传分析总结报告

81291-7 Variant ISCN

Term Description

ISCN is a syntax for describing cytogenetic findings, from classical karyotypes to details that can be observed with copy number methodologies. Using ISCN nomenclature is highly recommended for reporting structural variants.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Structural variant ISCN name
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Struct var ISCN name
Display Name
Structural variant ISCN name Nom
Consumer Name Alpha Get Info
Structural Variant ISCN Name

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nombre ISCN de variante estructural:Hallazgo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Nombre de la variante estructural ISCN:Hallazgo:Punto temporal:^paciente:Nom:
fr-FR French (France) Variant structurel ISCN nom:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante strutturale nome ISCN:Osservazione:Pt:^Paziente:Nom:
Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异 ISCN 命名:发现: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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 姓名;名字;名 时刻;随机;随意;瞬间 结构性变异 ISCN 命名;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) ISCN(International System for Human Cytogenetic Nomenclature、人类细胞遗传学国际命名体系、国际人类细胞遗传学命名体系、人类细胞遗传学国际命名系统、国际人类细胞遗传学命名系统、人类细胞遗传学国际命名体制) 命名(名称) 结构性变异;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)

62374-4 Human reference sequence assembly version

Term Description

The NCBI build id for human genome assemblies.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Human reference sequence assembly release number
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Human ref seq assembly+build
Display Name
Human reference sequence assembly and build Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Human reference sequence assembly and build, Blood or tissue specimen

Basic Attributes

Class
HL7.CYTOGEN
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.64
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Answer list binding from Normative to Preferred to allow reporting of new versions over time
Order vs. Observation
Observation

Preferred Answer List LL1040-6

Answer Code Score Answer ID
NCBI Build 34 34 LA14032-9
GRCh37 GRCh37 LA14029-5
NCBI Build 36.1 36.1 LA14030-3
NCBI Build 35 35 LA14031-1
GRCh38 GRCh38 LA26806-2

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Número de versión del conjunto de secuencia de referencia humana:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Identificador único de registro de secuencia humana de referencia NCBI:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Numéro de séquence de référence humaine:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Numero di release assemblea sequenza umana di riferimento:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di citogenetica Sangue Sangue o Tessuto Tessuto & Strisci
ru-RU Russian (Russian Federation) Человека генома справочника сборки релиза номер:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Human reference sequence assembly release number:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 人类参考基因组序列组装发布版本号:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 细胞遗传学 个数;数目 人类参考基因组序列组装发布版本号;人类参考基因组序列组装发行版本号;人類參考基因組序列組裝發佈版本號;人类参考基因组序列拼接发布版本号 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 血;血液

81303-0 HGVS version [ID]

Term Description

Report the version of HGVS used for all observations specified using HGVS nomenclature. Any change in the HGVS recommendations will get a new version number based on the date of the change. The format for reporting the HGVS version used is: ., for example, 2.120831.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
HGVS version
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
HGVS version
Display Name
HGVS version Nom [ID]
Consumer Name Alpha Get Info
HGVS version

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Versión HGVS:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Versión HGVS:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) HGVS version:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) HGVS, versione:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) versione HGVS
zh-CN Chinese (China) HGVS 版本:标识符:时间点:^患者:名义型:
Synonyms: HGVS 命名规则版本;HGVS 规则版本;HGVS;Human Genome Variation Society;人类基因组变异协会;人类基因组突变协会 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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 版;版次;变化形式;变体

82115-7 dbSNP version [ID]

Observation Required in Panel

Optional

Fully-Specified Name

Component
dbSNP version
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
dbSNP version
Display Name
dbSNP version Nom [ID]
Consumer Name Alpha Get Info
dbSNP version

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) versión dbSNP:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Versión dbSNP (base de datos de polimorfismos de nucleótido simple):Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) dbSNP version:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) versione dbSNP:ID:Pt:^Paziente:Nom:
Synonyms: database dei polimorfismi di un signolo nucleotide Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) dbSNP 版本:标识符:时间点:^患者:名义型:
Synonyms: dbSNP 数据库版本;dbSNP 单核苷酸多态性数据库版本;单核苷酸多态性数据库版本;单核苷酸多态性数据库;Single Nucleotide Polymorphism database 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 单核苷酸多态性数据库;Single Nucleotide Polymorphism database 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 版;版次;变化形式;变体

83007-5 COSMIC version [ID]

Observation Required in Panel

Optional

Fully-Specified Name

Component
COSMIC version
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
COSMIC version
Display Name
COSMIC version Nom [ID]
Consumer Name Alpha Get Info
COSMIC version

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Versión COSMIC:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Versión COSMIC:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) Version COSMIC:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) COSMIC versione:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) COSMIC 版本:标识符:时间点:^患者:名义型:
Synonyms: Catalogue Of Somatic Mutations In Cancer;COSMIC;癌症体细胞突变目录;癌症体细胞突变数据库;癌症基因突变数据库 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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 版;版次;变化形式;变体

83008-3 ClinVar version [ID]

Observation Required in Panel

Optional

Fully-Specified Name

Component
ClinVar version
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
ClinVar version
Display Name
ClinVar version Nom [ID]
Consumer Name Alpha Get Info
ClinVar version

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Versión ClinVar:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Versión ClinVar:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) Version ClinVar:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Versione ClinVar:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) ClinVar 版本:标识符:时间点:^患者:名义型:
Synonyms: 人类遗传变异与表型关系数据库;人类基因变异与表型关系数据库;人类遗传变异(基因变异、基因突变、突变、变异)与表型(表现型)关系数据库 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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 版;版次;变化形式;变体

81250-3 Discrete genetic variant panel

Term Description

This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Simple variant panel
Property
-
Time
Pt
System
^Patient
Scale
-
Method

Additional Names

Short Name
Simple var pnl
Display Name
Simple variant panel
Consumer Name Alpha Get Info
Simple variant panel

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de variante simple:-:Punto temporal:^ Paciente:-:
es-ES Spanish (Spain) Panel de variante simple:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
fr-FR French (France) Variant simple panel:-:Ponctuel:Patient:-:
it-IT Italian (Italy) Variante semplice panel:-:Pt:^Paziente:-:
Synonyms: Panel variante semplice Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 简单变异组套:-:时间点:^患者:-:
Synonyms: 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 简单变异组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);简单遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)组套 简单遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 组 组合 组合医嘱 组合类 组套

83005-9 Variant category

Fully-Specified Name

Component
Variant category
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Variant category
Display Name
Variant category Nom
Consumer Name Alpha Get Info
Variant category

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4165-8

Answer Code Score Answer ID
Simple variant LA26801-3
Structural variant LA26802-1

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Categoría de variante:Tipo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Categoría variante:Tipo:Punto temporal:^paciente:Nom:
fr-FR French (France) Catégorie de variant:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Categoria variante:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 变异类别: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 变异(遗传性变异、遗传变异、基因变异、传性变型、遗传变异体、基因变异体))类别(分类、类、类型) 型 时刻;随机;随意;瞬间

81252-9 Discrete genetic variant

Term Description

This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Simple variant
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Simple var ID
Display Name
Simple variant Nom [ID]
Consumer Name Alpha Get Info
Simple variant

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante simple:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Variante simple:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) Variant simple:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante semplice:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 简单变异:标识符: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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 简单遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)

48018-6 Gene studied [ID]

Term Description

HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Gene identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Gene studied ID
Display Name
Gene studied Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Gene studied, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
9796

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
102118-7 Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method
102119-5 Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method
74028-2 Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de gen estudiado:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador genético:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Gène identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Gene, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) gen-identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificação do gene:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Ген идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gen tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 基因标识;基因 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 遗传基因;遗传因子;吉恩;生物基因

51958-7 Transcript reference sequence [ID]

Term Description

This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Transcript reference sequence identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Transcript ref sequence ID
Display Name
Transcript reference sequence Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Transcript reference sequence, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14335

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de secuencia de referencia de la transcripción:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador de secuencia de referencia transcrita:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Séquence de référence du transcript identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Trascrizione, identificatore sequenza di riferimento:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore di sequenza di riferimento di trasc Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) transcriptie referentiesequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Transcrição identificador seqüência de referência:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Transcript ref sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Транскрипт референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Transkript referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 转录物参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 转录物(转录本、转录产物、转录子、转录)参考序列标识符;转录本参考序列标识;转录本参考序列 ID

48004-6 DNA change (c.HGVS)

Term Description

Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
DNA change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA change
Display Name
DNA change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
Order vs. Observation
Observation
Common Test Rank Get Info
8938

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Cambio de ADN:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) ADN variation:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Variação da sequência de DNA:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var; DNA change; Deoxyribonucleic acid; Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: DNA 改变 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液

48005-3 Amino acid change (pHGVS)

Term Description

Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Amino acid change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Amino acid change
Display Name
Amino acid change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
4958

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Cambio de aminoácidos:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) cambio aminoacídico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Acides aminés substitués:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijziging:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Mudança de amino ácido:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 氨基酸变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

48019-4 DNA change type

Term Description

Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
DNA change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA Change Type
Display Name
DNA change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change type, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.64
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
Order vs. Observation
Observation

Preferred Answer List LL4033-8

Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Insertion LA6687-3
Insertion/Deletion LA6688-1
Inversion LA6689-9
Substitution LA6690-7
Copy number gain LA14033-7
Copy number loss LA14034-5
Mobile element insertion LA26324-6
Novel sequence insertion LA26325-3
Tandem duplication LA26326-1
Intrachromosomal breakpoint LA26327-9
Interchromosomal breakpoint LA26328-7
Translocation LA26331-1
Complex LA26330-3
Sequence alteration LA26329-5

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Tipo de cambio de ADN:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Tipo de cambio del ADN:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-CA French (Canada) Type de variation de l'ADN:Type:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR French (France) ADN type de variation:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Cambio tipo di DNA Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Tipo de variação de sequência de DNA:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var type; DNA change type; Deoxyribonucleic acid; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 变化类型:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: DNA 改变 DNA 改变类型 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液

48006-1 Amino acid change [Type]

Term Description

Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Amino acid change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Amino acid change type
Display Name
Amino acid change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change type, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Order vs. Observation
Observation

Preferred Answer List LL380-7

Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Frameshift LA6694-9
Initiating Methionine LA6695-6
Insertion LA6687-3
Insertion and Deletion LA9659-9
Missense LA6698-0
Nonsense LA6699-8
Silent LA6700-4
Stop Codon Mutation LA6701-2

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Tipo de cambio de aminoácidos:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Tipo de cambio aminoacídico:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Acides aminés type de substitution:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Cambio tipo di aminoacido Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijzigingstype:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen soort
pt-BR Portuguese (Brazil) Tipo de mudança de amino ácido:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение тип:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi tipi:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 氨基酸变化类型:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

48013-7 Genomic reference sequence [ID]

Term Description

This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genomic reference sequence identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Genomic reference sequence ID
Display Name
Genomic reference sequence Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genomic reference sequence, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de secuencia de referencia genómica:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador de secuencia de referencia genómica:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Séquence de référence génomique identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Sequenza di riferimento genomica, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische referentie sequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificador da sequência de referência Genomic:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Ref Sequence; Genomic reference sequence ID; Reference sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Genetic; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геном референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因组参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 基因组参考序列标识;基因组参考序列 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液

81290-9 Genomic DNA change (gHGVS)

Term Description

The name of a structural variant reported using HGVS nomenclature.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genomic DNA change
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Struct var HGVS name
Display Name
Genomic DNA change (g.HGVS) Nom
Consumer Name Alpha Get Info
Genomic DNA Change (g.HGVS)

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Cambio de ADN genómico:Hallazgo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Nombre de la variante estructural HGVS:Hallazgo:Punto temporal:^paciente:Nom:
fr-FR French (France) Variation ADN génomique:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante strutturale nome HGVS:Osservazione:Pt:^Paziente:Nom:
Synonyms: Cambio di DNA Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 基因组 DNA 变化:发现:时间点:^患者:名义型:
Synonyms: DNA 改变 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 基因组 DNA 变化(变异、变动、改变、变更、变异、变型、突变);Genomic DNA change;gHGVS;结构性变异 HGVS 命名;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) HGVS(Human Genome Variation Society、人类基因组变异协会、人类基因组突变协会) 命名(名称) 时刻;随机;随意;瞬间 替换 置换

69547-8 Genomic ref allele [ID]

Term Description

Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Reference nucleotide
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Ref nucleotide
Display Name
Reference nucleotide Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Reference nucleotide, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nucleótido de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Nucleótido de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Nucléotide de référence:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Nucleotide di riferimento:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) referentie nucleotide:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PL Polish (Poland) Nukleotyd referencyjny:wykrycie lub identyfikacja:punkt w czasie:krew lub tkanka:cecha:genetyka molekularna
pt-BR Portuguese (Brazil) Nucleotídeo de referência:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Референс нуклеотид:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Referans nukleotid:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 参考核苷酸:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

81254-5 Genomic allele start-end

Term Description

The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Variant exact start-end
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Gen allele loc ID
Display Name
Genomic allele start-end
Consumer Name Alpha Get Info
Variant exact start-end

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.68
Change Reason
Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante de inicio-fin exacto:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Localización del alelo genómico:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) Variant exact (Début-fin):Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Posizione genomica dell'allele:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异确切起止位置:标识符: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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 结构变异确切(精确)起止位置;基因组等位基因起始(起点、开头、开始、头)-结束(终点、结尾、终止、尾)位置;基因组等位基因位置 起始

69551-0 Genomic alt allele [ID]

Term Description

The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Variable nucleotide
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Alt allele
Display Name
Genomic alternate allele Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genomic alternate allele, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Alelo alternativo genómico:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Nucleótido variable:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Nucléotide variable:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Nucleotide variabile:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) variable nucleotide:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Nucleotídeo variável:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Вариабельный нуклеотид:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Değişken nükleotid:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 可变核苷酸:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

84414-2 Haplotype name

Observation Required in Panel

Optional

Fully-Specified Name

Component
Haplotype name
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Haplotype name Bld/T
Display Name
Haplotype name Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Haplotype name, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nombre del haplotipo:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Nombre Haplotipo:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Nom haplotype:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Aplotipo, nome:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Nome dell''aplotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 单体型名称:标识符:时间点:全血/组织:名义型:
Synonyms: 全血或组织;血液/组织;血液或组织 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 单体型(单倍型、单倍体型、单元型、单倍体)名称(命名) 姓名;名字;名 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 血;血液

81255-2 dbSNP [ID]

Term Description

The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
dbSNP
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
dbSNP ID
Display Name
dbSNP Nom [ID]
Consumer Name Alpha Get Info
dbSNP

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) dbSNP:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) dbSNP:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) dbSNP:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) dbSNP:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) dbSNP:标识符: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 单核苷酸多态性数据库;Single Nucleotide Polymorphism database 时刻;随机;随意;瞬间 标识;身份标识符;身份标识

81257-8 CIGAR [ID]

Term Description

This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
CIGAR
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
CIGAR var ID
Display Name
CIGAR Nom [ID]
Consumer Name Alpha Get Info
CIGAR

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) CIGARRO:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) CIGAR:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) CIGAR:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) CIGAR:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
pl-PL Polish (Poland) CIGAR:identyfikator:punkt w czasie:^pacjent:cecha:
Synonyms: CIGAR
zh-CN Chinese (China) CIGAR:标识符: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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 简要比对信息表达式;紧凑型特殊缺口式比对报告;Compact Idiosyncratic Gapped Alignment Report

48001-2 Cytogenetic (chromosome) location

Observation Required in Panel

Optional

Fully-Specified Name

Component
Chromosome region
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Cyto loc ID
Display Name
Cytogenetic location Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Cytogenetic location, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Región cromosómica:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Región cromosómica:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Chromosome région:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Regione cromosomica:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) 염색체 부위:확인자:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) chromosoomgebied:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Região do cromossomo:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Chromosomes; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Chromosom; Molecular pathology
ru-RU Russian (Russian Federation) Хромосома участок:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Kromozom bölgesi:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 染色体区域:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学.杂项;分子病理学试验.杂项;分子病理学试验类.其他 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 区;地区;局部 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 杂项;杂项类;杂项试验 染色体二体型+染色体三体型 染色体部位;染色体区;染色体区带;染色体部;染色体区域(染色体部位、染色体区、染色体区带、染色体部) 标识;身份标识符;身份标识 血;血液

48002-0 Genomic source class [Type]

Term Description

The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genomic source class
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genomic source class
Display Name
Genomic source class Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genomic source class, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14631

Preferred Answer List LL378-1

Answer Code Score Answer ID
Germline LA6683-2
Somatic LA6684-0
Fetal LA10429-1
Likely germline LA18194-3
Likely somatic LA18195-0
Likely fetal LA18196-8
Unknown genomic origin LA18197-6
De novo LA26807-0

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Clase de fuente genómica:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Origen de la clase genómica:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Source génomique:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Classe fonte Genomica:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische bronklasse:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Classe da fonte Genomic:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Genetic variant source; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Srce; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геномный источник класс:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik kaynak sınıfı:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 基因组来源类:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 型 基因组来源类别 族;种类;等;类;类别;级;纲;组 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 源 血;血液

81304-8 Variant analysis method [Type]

Term Description

The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Structural variant analysis method
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method
*

Additional Names

Short Name
Struct var analysis method
Display Name
Structural variant analysis method Nom
Consumer Name Alpha Get Info
Structural variant analysis method

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4048-6

Answer Code Score Answer ID
Sequencing LA26398-0
Oligo aCGH LA26399-8
SNP array LA26400-4
BAC aCGH LA26401-2
Curated LA26402-0
Digital array LA26403-8
FISH LA26404-6
Gene expression array LA26405-3
Karyotyping LA26406-1
MAPH LA26407-9
MALDI-TOF LA26408-7
Merging LA26808-8
Multiple complete digestion LA26414-5
MLPA LA26415-2
Optical mapping LA26417-8
PCR LA26418-6
qPCR (real-time PCR) LA26419-4
ROMA LA26420-2
Denaturing high-pressure liquid chromatography (DHPLC) LA26809-6
DNA hybridization LA26810-4
Computational analysis LA26811-2
Single-stranded conformational polymorphism (SSCP) LA26812-0
Restriction fragment length polymorphism (RFLP) LA26813-8

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Método de análisis de variantes estructurales:Tipo:Punto temporal:^ Paciente:Nominal:*
es-ES Spanish (Spain) Métodos de análisis de la variante estrucutral:Tipo:Punto temporal:^paciente:Nom:*
fr-FR French (France) Variant structurel méthode d'analyse:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Metodo di analisi della variante strutturale:Tipo:Pt:^Paziente:Nom:*
Synonyms: Metodo di analisi Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异分析方法: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 方;法;办法;方式 时刻;随机;随意;瞬间 结构性变异;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 结构性变异分析方法;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)分析方法

53037-8 Genetic variation clinical significance [Imp]

Term Description

Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic disease sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis seq var interp-Imp
Display Name
Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease sequence variation interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
11949

Preferred Answer List LL4034-6

Answer Code Score Answer ID
Pathogenic LA6668-3
Likely pathogenic LA26332-9
Uncertain significance LA26333-7
Likely benign LA26334-5
Benign LA6675-8

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la variación de la secuencia de la enfermedad genética:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Interpretación de la variante de secuencia de la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica, interpretazione variazione di sequenza:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione della variazione di sequenza di ma Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische ziekte sequentievariatie interpretatie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Doença genética interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетическое заболевание последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık sekans varyasyon yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传性疾病序列变异解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 病 症 血;血液 遗传性疾病(遗传疾病、遗传病、基因疾病)序列变异解释

69548-6 Genetic variant assessment

Term Description

Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic variant assessment
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genetic var assess
Display Name
Genetic variant assessment Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic variant assessment, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
13238

Preferred Answer List LL1971-2

Answer Code Score Answer ID
Present Copyright http://snomed.info/sct ID:52101004 Present (qualifier value) LA9633-4
Absent Copyright http://snomed.info/sct ID:2667000 Absent (qualifier value) LA9634-2
No call LA18198-4
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Evaluación de variantes genéticas:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Valoración de la variabilidad genética:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Variant génétique étudié:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Variante genetica, valutazione:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Valutazione di variante genetica
nl-NL Dutch (Netherlands) genetische variant evaluatie:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Variante genética avaliação:Achado:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Генетического варианта исследование:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik varyant değerlendirme:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传变异评估:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 评价;估计;估价;评论;估定;估算 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)评估(评价、估计、估价、评论、估定、估算);遗传变异体评估

81259-4 Associated phenotype

Term Description

The possible phenotype associated with the genetic variant found in this study.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Associated phenotype
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Prob assoc phenotype
Display Name
Associated phenotype
Consumer Name Alpha Get Info
Associated phenotype

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.71
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Fenotipo asociado:Hallazgo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Fenotipo asociado probable:Hallazgo:Punto temporal:^paciente:Nom:
fr-FR French (France) Phénotype associé:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Probabile fenotipo associato:Osservazione:Pt:^Paziente:Nom:
Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 关联表型:发现:时间点:^患者:名义型:
Synonyms: 关联(相关、所关联的、相关的)表型(表现型);可能(很可能)相关(关联)表型(表现型);可能相关表型 关联的 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 有联系的 相关的

53034-5 Allelic state

Term Description

The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Allelic state
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Allelic state
Display Name
Allelic state Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Allelic state, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.68
Order vs. Observation
Observation

Preferred Answer List LL381-5

Answer Code Score Answer ID
Heteroplasmic LA6703-8
Homoplasmic LA6704-6
Homozygous LA6705-3
Heterozygous LA6706-1
Hemizygous LA6707-9

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Statut allélique:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Stato allelico:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) allelstatus:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Estado alélicas:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аллельное состояние:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Allelik durum:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 等位状态:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 州;邦;政府;国家;状况;情况 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 等位基因状态 血;血液

81258-6 Sample variant allelic frequency [NFr]

Term Description

The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Sample variant allelic frequency
Property
NFr
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Sample VAF
Display Name
Sample variant allelic frequency
Consumer Name Alpha Get Info
Sample variant allelic frequency

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.73
Change Reason
Updated Component from "Allelic frequency" to clarify that this term represents the allelic frequency within a study sample, and corrected Term description to describe sample-level allelic frequency rather than population allelic frequency.
Order vs. Observation
Observation
Common Test Rank Get Info
8648

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Frecuencia alélica variante de muestra:Fracción numérica:Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Frecuencia alélica variante de muestra:Fracción numérica:Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Example de fréquence de variant allélique:Fraction de nombres:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Frequenza allelica della variante campione:NFr:Pt:^Paziente:Qn:
Synonyms: Frazione numerica Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 样品等位基因频率:计数型分数:时间点:^患者:定量型:
Synonyms: 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 对偶基因频率;基因位点频率 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 样品(标本、样本、试样)等位基因频率 频次;频度;频繁性;次数;频率分布;发生次数;周率;频繁程度

Example Units

Unit Source
% Example UCUM Units

82121-5 Allelic read depth

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allelic read depth
Property
Num
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Allelic read depth
Display Name
Allelic read depth [#]
Consumer Name Alpha Get Info
Allelic read depth

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Profundidad de lectura alélica:Número (recuento):Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Profundidad de lectura alélica:Número (recuento):Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Profondeur allélique:Nombre:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) profondità di lettura allelica:Num:Pt:^Paziente:Qn:
Synonyms: genomico, SNPs, polimorfismi Numero (conta) Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 等位基因读取深度:数量(计数):时间点:^患者:定量型:
Synonyms: 个数;数量;数量或计数(非负整数);计数 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 深 等位基因读取(测序、阅读)深度;等位基因测序深度;等位基因阅读深度

Example Units

Unit Source
{#} Example UCUM Units

82120-7 Allelic phase

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allelic phase
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Allelic phase
Display Name
Allelic phase Nom
Consumer Name Alpha Get Info
Allelic phase

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4025-4

Answer Code Score Answer ID
1st set of variants in cis relation to each other LA26814-6
2nd set of variants in cis relation to each other LA26815-3
3rd set of variants in cis relation to each other LA26816-1
4th set of variants in cis relation to each other LA26817-9
5th set of variants in cis relation to each other LA26818-7
Maternal LA26320-4
Paternal LA26321-2
Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) LA4489-6
Other, Please specify: LA46-8

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Fase alélica:Tipo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Fase alélica:Tipo:Punto temporal:^paciente:Nom:
fr-FR French (France) Phase allélique:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Fase allelica:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 等位基因类型: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 时刻;随机;随意;瞬间 等位基因类型(类、型、种类、状态、相位、phase)

82309-6 Basis for allelic phase [Type]

Part Descriptions

LP220487-5   Basis for allelic phase
The evidential basis on which the allelic phase and/or the allelic state was concluded.
Choices include:
1) Directly measured;
2) Family DNA;
3) Family history;
4) Inferred from population data Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Basis for allelic phase
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method
*

Additional Names

Short Name
Basis allelic phase
Display Name
Basis for allelic phase Nom
Consumer Name Alpha Get Info
Basis for allelic phase

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4050-2

Answer Code Score Answer ID
Directly measured LA26426-9
Family DNA LA26427-7
Family history LA26428-5
Inferred from population data LA26429-3

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Base para la fase alélica:Tipo:Punto temporal:^ Paciente:Nominal:*
es-ES Spanish (Spain) Bases para la fase alélica:Tipo:Punto temporal:^paciente:Nom:*
fr-FR French (France) Bases de la phase allélique:Type:Ponctuel:Patient:Résultat nominal:*
it-IT Italian (Italy) Fondamenti di fase allelica:Tipo:Pt:^Paziente:Nom:*
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) basis voor allelische fase:type:moment:^patiënt:nominaal:*
zh-CN Chinese (China) 等位基因相的依据: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 时刻;随机;随意;瞬间 等位基因相(状态、相位)的依据(根据、原因、缘由) 等位基因类型(类、型、种类、状态、相位、phase)

81297-4 Structural variant panel

Fully-Specified Name

Component
Structural variant panel
Property
-
Time
Pt
System
^Patient
Scale
-
Method

Additional Names

Short Name
Struct variant pnl
Display Name
Structural variant panel
Consumer Name Alpha Get Info
Structural variant panel

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.56
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de variante estructural:-:Punto temporal:^ Paciente:-:
es-ES Spanish (Spain) Panel de variante estrucutral:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
fr-FR French (France) Variant structurel panel:-:Ponctuel:Patient:-:
it-IT Italian (Italy) Variante strutturale,panel:-:Pt:^Paziente:-:
Synonyms: Panel variante strutturale Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 结构变异组套:-:时间点:^患者:-:
Synonyms: 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 结构性变异;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 结构性变异组套;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目)

82155-3 Genomic structural variant copy number

Fully-Specified Name

Component
Genomic structural variant copy number
Property
Num
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Gen struct var copy num
Display Name
Genomic structural variant copy number [#]
Consumer Name Alpha Get Info
Genomic structural variant copy number

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
11285

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Número de copia de la variante estructural genómica:Número (recuento):Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Número de copias de la variante estructural genómica:Número (recuento):Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Variant structurel génomique nombre de copies:Nombre:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Numero copia della variante strutturale genomica:Num:Pt:^Paziente:Qn:
Synonyms: Numero (conta) Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 基因组结构变异拷贝数量:数量(计数):时间点:^患者:定量型:
Synonyms: 个数;数目 个数;数量;数量或计数(非负整数);计数 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 基因组结构性变异拷贝(副本)数(数量、计数);基因组结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)拷贝(副本)数(数量、计数) 时刻;随机;随意;瞬间 结构性变异;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)

Example Units

Unit Source
{#} Example UCUM Units

81299-0 Structural variant reported arrCGH [Ratio]

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Structural variant reported arrCGH
Property
Ratio
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Struct var rep arrCGH Rto
Display Name
Structural variant reported arrCGH [Ratio]
Consumer Name Alpha Get Info
Structural variant reported arrCGH

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.56
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante estructural reportada arrCGH:Proporción:Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Variante estructural determinada por array-CGH:Fracción:Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Variant structurel reporté CGH Array:Ratio:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Variante strutturale riportata arrCGH:Rapporto:Pt:^Paziente:Qn:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 微阵列比较基因组杂交法所报告的结构变异:比率:时间点:^患者:定量型:
Synonyms: 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 微阵列比较基因组杂交法(arrCGH 法、Array CGH 法、微阵列-比较基因组杂交法)所报告的结构性变异;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体);Array Comparative Genomic Hybridization;微阵列比较基因组杂交;Microarray-based comparative genomic hybridization;微阵列-比较基因组杂交;Array CGH;arrCGH;a-CGH;aCGH 时刻;随机;随意;瞬间 来自于不同体系的两个观察指标之比;比;比值 结构性变异;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)

Example Units

Unit Source
{Ratio} Example UCUM Units

81300-6 Structural variant [Length]

Term Description

Length of the structural variant, which information may be ascertained in some but not all types of structural variants.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Structural variant
Property
Len
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Struct var len
Display Name
Structural variant [Length]
Consumer Name Alpha Get Info
Structural variant

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.56
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante estructural:Largo:Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Variante estructural:Longitud:Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Variant structurel:Longueur:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Variante strutturale:Len:Pt:^Paziente:Qn:
Synonyms: Lunghezza Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异:长度:时间点:^患者:定量型:
Synonyms: 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 结构性变异;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 长;长短

Example Units

Unit Source
{#} Example UCUM Units

81301-4 Structural variant outer start and end

Term Description

The genomic coordinates of the widest genomic range in which the variant might reside.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Variant outer start-end
Property
NumRange
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Struct var outer start-end NumRange
Display Name
Variant outer start-end [# range]
Consumer Name Alpha Get Info
Variant outer start-end

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.68
Change Reason
Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante de inicio-fin exterior:NumRange:Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Variante estructural externa principio-fin:Rango numérico:Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Variant externe (Début-fin):Numéro de lot:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Variante strutturale inizio-fine estremo:NumRange:Pt:^Paziente:Qn:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异最宽起止范围:数值范围:时间点:^患者:定量型:
Synonyms: 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 数值(数值型、数目、编号)范围(值域、区间、界限);数值型范围;数目范围;编号范围 时刻;随机;随意;瞬间 结构性变异最宽起止范围;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)最宽(最大、外围、外层)起止范围(位置);结构变异最宽(最大、外围、外层)基因组范围 起始

Example Units

Unit Source
{Range} Example UCUM Units

81302-2 Structural variant inner start and end

Term Description

The genomic coordinates of the narrowest genomic range in which the variant might reside.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Variant inner start-end
Property
NumRange
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Struct var inner start-end NumRange
Display Name
Variant inner start-end [# range]
Consumer Name Alpha Get Info
Variant inner start-end

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.68
Change Reason
Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante de inicio-fin interno:NumRange:Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Variante estructural interna principio-fin:Rango numérico:Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Variant interne (Début-fin):Numéro de lot:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Variante strutturale inizio-fine interno:NumRange:Pt:^Paziente:Qn:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异最窄起止范围:数值范围:时间点:^患者:定量型:
Synonyms: 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 数值(数值型、数目、编号)范围(值域、区间、界限);数值型范围;数目范围;编号范围 时刻;随机;随意;瞬间 结构性变异最窄起止范围;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)最窄(最小、内圈、内层)起止范围(位置);结构变异最窄(最小、内圈、内层)基因组范围 起始

Example Units

Unit Source
{Range} Example UCUM Units

81251-1 Complex genetic variant panel

Term Description

This panel is used to report information related to a complex genetic variant and includes a repeating subpanel for reporting specific information for each simple variation that the complex variant includes.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Complex variant panel
Property
-
Time
Pt
System
^Patient
Scale
-
Method

Additional Names

Short Name
Comp var pnl
Display Name
Complex variant panel
Consumer Name Alpha Get Info
Complex variant panel

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de variantes complejas:-:Punto temporal:^ Paciente:-:
es-ES Spanish (Spain) Panel de variante compleja:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
fr-FR French (France) Variant complexe panel:-:Ponctuel:Patient:-:
it-IT Italian (Italy) Variante complessa panel:-:Pt:^Paziente:-:
Synonyms: Panel variante complessa Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 复杂变异组套:-:时间点:^患者:-:
Synonyms: 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 复合体 复杂变异组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);复杂遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)组套 复杂遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套

81260-2 Complex genetic variant [ID]

Term Description

This term is used to report the unique identifier of the complex variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_000106.5(CYP2D6):c.[886C>T;457G>C] - Haplotype has the ClinVar ID 16895. [http://www.ncbi.nlm.nih.gov/clinvar/variation/16895/]
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Complex variant
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Comp var ID
Display Name
Complex variant Nom [ID]
Consumer Name Alpha Get Info
Complex variant

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante compleja:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Variante compleja:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) Variant complexe:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante complessa:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 复杂变异:标识符: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 复合体 复杂遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 时刻;随机;随意;瞬间 标识;身份标识符;身份标识

81262-8 Complex variant HGVS name

Term Description

This term is used to report the name of the complex variant found in this study in HGVS format. For example, c.[886C>T;457G>C], which represents two separate base substitutions in one gene on one chromosome, or c.[886C>T];[457G>C], which represents two separate base substitutions in one gene on two different chromosomes.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Complex variant HGVS name
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Comp var HGVS name
Display Name
Complex variant HGVS name Nom
Consumer Name Alpha Get Info
Complex Variant HGVS Name

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.56
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nombre de la variante compleja de HGVS:Hallazgo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Nombre de la variante compleja HGVS:Hallazgo:Punto temporal:^paciente:Nom:
fr-FR French (France) Variant complexe HGVS nom:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante complessa nome HGVS:Osservazione:Pt:^Paziente:Nom:
Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 复杂变异 HGVS 命名:发现: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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 复合体 复杂遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 复杂遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) HGVS(Human Genome Variation Society、人类基因组变异协会、人类基因组突变协会) 命名(名称) 姓名;名字;名 时刻;随机;随意;瞬间

81263-6 Complex variant type

Term Description

The type of complex variant, for example, compound heterozygous or haplotype.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Complex variant type
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Comp var type
Display Name
Complex variant type Nom
Consumer Name Alpha Get Info
Complex variant type

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.56
Order vs. Observation
Observation

Example Answer List LL3999-1

Answer Code Score Answer ID
Compound heterozygous LA26217-2
Double heterozygous LA26220-6
Haplotype LA26218-0
Hemizygous LA6707-9

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Tipo de variante compleja:Tipo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Tipo de variante compleja:Tipo:Punto temporal:^paciente:Nom:
fr-FR French (France) Variant complexe type:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Tipo di variante complessa:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 复杂变异类型: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 复合体 复杂遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 复杂遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)类型(类、型、种类) 时刻;随机;随意;瞬间

81259-4 Associated phenotype

Term Description

The possible phenotype associated with the genetic variant found in this study.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Associated phenotype
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Prob assoc phenotype
Display Name
Associated phenotype
Consumer Name Alpha Get Info
Associated phenotype

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.71
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Fenotipo asociado:Hallazgo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Fenotipo asociado probable:Hallazgo:Punto temporal:^paciente:Nom:
fr-FR French (France) Phénotype associé:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Probabile fenotipo associato:Osservazione:Pt:^Paziente:Nom:
Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 关联表型:发现:时间点:^患者:名义型:
Synonyms: 关联(相关、所关联的、相关的)表型(表现型);可能(很可能)相关(关联)表型(表现型);可能相关表型 关联的 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 有联系的 相关的

53037-8 Genetic variation clinical significance [Imp]

Term Description

Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic disease sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis seq var interp-Imp
Display Name
Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease sequence variation interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
11949

Preferred Answer List LL4034-6

Answer Code Score Answer ID
Pathogenic LA6668-3
Likely pathogenic LA26332-9
Uncertain significance LA26333-7
Likely benign LA26334-5
Benign LA6675-8

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la variación de la secuencia de la enfermedad genética:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Interpretación de la variante de secuencia de la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica, interpretazione variazione di sequenza:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione della variazione di sequenza di ma Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische ziekte sequentievariatie interpretatie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Doença genética interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетическое заболевание последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık sekans varyasyon yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传性疾病序列变异解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 病 症 血;血液 遗传性疾病(遗传疾病、遗传病、基因疾病)序列变异解释

53034-5 Allelic state

Term Description

The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allelic state
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Allelic state
Display Name
Allelic state Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Allelic state, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.68
Order vs. Observation
Observation

Preferred Answer List LL381-5

Answer Code Score Answer ID
Heteroplasmic LA6703-8
Homoplasmic LA6704-6
Homozygous LA6705-3
Heterozygous LA6706-1
Hemizygous LA6707-9

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Statut allélique:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Stato allelico:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) allelstatus:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Estado alélicas:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аллельное состояние:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Allelik durum:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 等位状态:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 州;邦;政府;国家;状况;情况 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 等位基因状态 血;血液

82309-6 Basis for allelic phase [Type]

Part Descriptions

LP220487-5   Basis for allelic phase
The evidential basis on which the allelic phase and/or the allelic state was concluded.
Choices include:
1) Directly measured;
2) Family DNA;
3) Family history;
4) Inferred from population data Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Basis for allelic phase
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method
*

Additional Names

Short Name
Basis allelic phase
Display Name
Basis for allelic phase Nom
Consumer Name Alpha Get Info
Basis for allelic phase

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4050-2

Answer Code Score Answer ID
Directly measured LA26426-9
Family DNA LA26427-7
Family history LA26428-5
Inferred from population data LA26429-3

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Base para la fase alélica:Tipo:Punto temporal:^ Paciente:Nominal:*
es-ES Spanish (Spain) Bases para la fase alélica:Tipo:Punto temporal:^paciente:Nom:*
fr-FR French (France) Bases de la phase allélique:Type:Ponctuel:Patient:Résultat nominal:*
it-IT Italian (Italy) Fondamenti di fase allelica:Tipo:Pt:^Paziente:Nom:*
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) basis voor allelische fase:type:moment:^patiënt:nominaal:*
zh-CN Chinese (China) 等位基因相的依据: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 时刻;随机;随意;瞬间 等位基因相(状态、相位)的依据(根据、原因、缘由) 等位基因类型(类、型、种类、状态、相位、phase)

81250-3 Discrete genetic variant panel

Term Description

This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Simple variant panel
Property
-
Time
Pt
System
^Patient
Scale
-
Method

Additional Names

Short Name
Simple var pnl
Display Name
Simple variant panel
Consumer Name Alpha Get Info
Simple variant panel

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de variante simple:-:Punto temporal:^ Paciente:-:
es-ES Spanish (Spain) Panel de variante simple:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
fr-FR French (France) Variant simple panel:-:Ponctuel:Patient:-:
it-IT Italian (Italy) Variante semplice panel:-:Pt:^Paziente:-:
Synonyms: Panel variante semplice Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 简单变异组套:-:时间点:^患者:-:
Synonyms: 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 简单变异组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);简单遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)组套 简单遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 组 组合 组合医嘱 组合类 组套

83005-9 Variant category

Fully-Specified Name

Component
Variant category
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Variant category
Display Name
Variant category Nom
Consumer Name Alpha Get Info
Variant category

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4165-8

Answer Code Score Answer ID
Simple variant LA26801-3
Structural variant LA26802-1

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Categoría de variante:Tipo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Categoría variante:Tipo:Punto temporal:^paciente:Nom:
fr-FR French (France) Catégorie de variant:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Categoria variante:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 变异类别: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 变异(遗传性变异、遗传变异、基因变异、传性变型、遗传变异体、基因变异体))类别(分类、类、类型) 型 时刻;随机;随意;瞬间

81252-9 Discrete genetic variant

Term Description

This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Simple variant
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Simple var ID
Display Name
Simple variant Nom [ID]
Consumer Name Alpha Get Info
Simple variant

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante simple:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Variante simple:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) Variant simple:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante semplice:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 简单变异:标识符: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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 简单遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)

48018-6 Gene studied [ID]

Term Description

HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Gene identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Gene studied ID
Display Name
Gene studied Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Gene studied, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
9796

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
102118-7 Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method
102119-5 Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method
74028-2 Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de gen estudiado:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador genético:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Gène identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Gene, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) gen-identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificação do gene:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Ген идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gen tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 基因标识;基因 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 遗传基因;遗传因子;吉恩;生物基因

51958-7 Transcript reference sequence [ID]

Term Description

This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Transcript reference sequence identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Transcript ref sequence ID
Display Name
Transcript reference sequence Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Transcript reference sequence, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14335

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de secuencia de referencia de la transcripción:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador de secuencia de referencia transcrita:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Séquence de référence du transcript identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Trascrizione, identificatore sequenza di riferimento:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore di sequenza di riferimento di trasc Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) transcriptie referentiesequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Transcrição identificador seqüência de referência:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Transcript ref sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Транскрипт референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Transkript referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 转录物参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 转录物(转录本、转录产物、转录子、转录)参考序列标识符;转录本参考序列标识;转录本参考序列 ID

48004-6 DNA change (c.HGVS)

Term Description

Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
DNA change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA change
Display Name
DNA change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
Order vs. Observation
Observation
Common Test Rank Get Info
8938

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Cambio de ADN:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) ADN variation:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Variação da sequência de DNA:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var; DNA change; Deoxyribonucleic acid; Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: DNA 改变 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液

48005-3 Amino acid change (pHGVS)

Term Description

Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Amino acid change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Amino acid change
Display Name
Amino acid change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
4958

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Cambio de aminoácidos:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) cambio aminoacídico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Acides aminés substitués:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijziging:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Mudança de amino ácido:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 氨基酸变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

48019-4 DNA change type

Term Description

Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
DNA change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA Change Type
Display Name
DNA change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change type, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.64
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
Order vs. Observation
Observation

Preferred Answer List LL4033-8

Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Insertion LA6687-3
Insertion/Deletion LA6688-1
Inversion LA6689-9
Substitution LA6690-7
Copy number gain LA14033-7
Copy number loss LA14034-5
Mobile element insertion LA26324-6
Novel sequence insertion LA26325-3
Tandem duplication LA26326-1
Intrachromosomal breakpoint LA26327-9
Interchromosomal breakpoint LA26328-7
Translocation LA26331-1
Complex LA26330-3
Sequence alteration LA26329-5

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Tipo de cambio de ADN:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Tipo de cambio del ADN:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-CA French (Canada) Type de variation de l'ADN:Type:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR French (France) ADN type de variation:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Cambio tipo di DNA Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Tipo de variação de sequência de DNA:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var type; DNA change type; Deoxyribonucleic acid; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 变化类型:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: DNA 改变 DNA 改变类型 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液

48006-1 Amino acid change [Type]

Term Description

Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Amino acid change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Amino acid change type
Display Name
Amino acid change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change type, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Order vs. Observation
Observation

Preferred Answer List LL380-7

Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Frameshift LA6694-9
Initiating Methionine LA6695-6
Insertion LA6687-3
Insertion and Deletion LA9659-9
Missense LA6698-0
Nonsense LA6699-8
Silent LA6700-4
Stop Codon Mutation LA6701-2

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Tipo de cambio de aminoácidos:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Tipo de cambio aminoacídico:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Acides aminés type de substitution:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Cambio tipo di aminoacido Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijzigingstype:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen soort
pt-BR Portuguese (Brazil) Tipo de mudança de amino ácido:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение тип:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi tipi:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 氨基酸变化类型:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

48013-7 Genomic reference sequence [ID]

Term Description

This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genomic reference sequence identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Genomic reference sequence ID
Display Name
Genomic reference sequence Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genomic reference sequence, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de secuencia de referencia genómica:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador de secuencia de referencia genómica:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Séquence de référence génomique identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Sequenza di riferimento genomica, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische referentie sequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificador da sequência de referência Genomic:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Ref Sequence; Genomic reference sequence ID; Reference sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Genetic; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геном референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因组参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 基因组参考序列标识;基因组参考序列 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液

81290-9 Genomic DNA change (gHGVS)

Term Description

The name of a structural variant reported using HGVS nomenclature.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genomic DNA change
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Struct var HGVS name
Display Name
Genomic DNA change (g.HGVS) Nom
Consumer Name Alpha Get Info
Genomic DNA Change (g.HGVS)

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Cambio de ADN genómico:Hallazgo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Nombre de la variante estructural HGVS:Hallazgo:Punto temporal:^paciente:Nom:
fr-FR French (France) Variation ADN génomique:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante strutturale nome HGVS:Osservazione:Pt:^Paziente:Nom:
Synonyms: Cambio di DNA Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 基因组 DNA 变化:发现:时间点:^患者:名义型:
Synonyms: DNA 改变 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 基因组 DNA 变化(变异、变动、改变、变更、变异、变型、突变);Genomic DNA change;gHGVS;结构性变异 HGVS 命名;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) HGVS(Human Genome Variation Society、人类基因组变异协会、人类基因组突变协会) 命名(名称) 时刻;随机;随意;瞬间 替换 置换

69547-8 Genomic ref allele [ID]

Term Description

Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Reference nucleotide
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Ref nucleotide
Display Name
Reference nucleotide Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Reference nucleotide, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nucleótido de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Nucleótido de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Nucléotide de référence:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Nucleotide di riferimento:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) referentie nucleotide:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PL Polish (Poland) Nukleotyd referencyjny:wykrycie lub identyfikacja:punkt w czasie:krew lub tkanka:cecha:genetyka molekularna
pt-BR Portuguese (Brazil) Nucleotídeo de referência:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Референс нуклеотид:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Referans nukleotid:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 参考核苷酸:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

81254-5 Genomic allele start-end

Term Description

The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Variant exact start-end
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Gen allele loc ID
Display Name
Genomic allele start-end
Consumer Name Alpha Get Info
Variant exact start-end

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.68
Change Reason
Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Variante de inicio-fin exacto:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Localización del alelo genómico:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) Variant exact (Début-fin):Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Posizione genomica dell'allele:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异确切起止位置:标识符: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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 结构变异确切(精确)起止位置;基因组等位基因起始(起点、开头、开始、头)-结束(终点、结尾、终止、尾)位置;基因组等位基因位置 起始

69551-0 Genomic alt allele [ID]

Term Description

The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Variable nucleotide
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Alt allele
Display Name
Genomic alternate allele Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genomic alternate allele, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Alelo alternativo genómico:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Nucleótido variable:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Nucléotide variable:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Nucleotide variabile:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) variable nucleotide:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Nucleotídeo variável:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Вариабельный нуклеотид:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Değişken nükleotid:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 可变核苷酸:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

84414-2 Haplotype name

Observation Required in Panel

Optional

Fully-Specified Name

Component
Haplotype name
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Haplotype name Bld/T
Display Name
Haplotype name Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Haplotype name, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nombre del haplotipo:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Nombre Haplotipo:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Nom haplotype:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Aplotipo, nome:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Nome dell''aplotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 单体型名称:标识符:时间点:全血/组织:名义型:
Synonyms: 全血或组织;血液/组织;血液或组织 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 单体型(单倍型、单倍体型、单元型、单倍体)名称(命名) 姓名;名字;名 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 血;血液

81255-2 dbSNP [ID]

Term Description

The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
dbSNP
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
dbSNP ID
Display Name
dbSNP Nom [ID]
Consumer Name Alpha Get Info
dbSNP

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) dbSNP:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) dbSNP:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) dbSNP:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) dbSNP:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) dbSNP:标识符: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 单核苷酸多态性数据库;Single Nucleotide Polymorphism database 时刻;随机;随意;瞬间 标识;身份标识符;身份标识

81257-8 CIGAR [ID]

Term Description

This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
CIGAR
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
CIGAR var ID
Display Name
CIGAR Nom [ID]
Consumer Name Alpha Get Info
CIGAR

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) CIGARRO:Identificador:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) CIGAR:Código identificador:Punto temporal:^paciente:Nom:
fr-FR French (France) CIGAR:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) CIGAR:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
pl-PL Polish (Poland) CIGAR:identyfikator:punkt w czasie:^pacjent:cecha:
Synonyms: CIGAR
zh-CN Chinese (China) CIGAR:标识符: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 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 简要比对信息表达式;紧凑型特殊缺口式比对报告;Compact Idiosyncratic Gapped Alignment Report

48001-2 Cytogenetic (chromosome) location

Observation Required in Panel

Optional

Fully-Specified Name

Component
Chromosome region
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Cyto loc ID
Display Name
Cytogenetic location Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Cytogenetic location, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Región cromosómica:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Región cromosómica:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Chromosome région:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Regione cromosomica:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) 염색체 부위:확인자:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) chromosoomgebied:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Região do cromossomo:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Chromosomes; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Chromosom; Molecular pathology
ru-RU Russian (Russian Federation) Хромосома участок:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Kromozom bölgesi:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 染色体区域:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学.杂项;分子病理学试验.杂项;分子病理学试验类.其他 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 区;地区;局部 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 杂项;杂项类;杂项试验 染色体二体型+染色体三体型 染色体部位;染色体区;染色体区带;染色体部;染色体区域(染色体部位、染色体区、染色体区带、染色体部) 标识;身份标识符;身份标识 血;血液

48002-0 Genomic source class [Type]

Term Description

The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genomic source class
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genomic source class
Display Name
Genomic source class Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genomic source class, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14631

Preferred Answer List LL378-1

Answer Code Score Answer ID
Germline LA6683-2
Somatic LA6684-0
Fetal LA10429-1
Likely germline LA18194-3
Likely somatic LA18195-0
Likely fetal LA18196-8
Unknown genomic origin LA18197-6
De novo LA26807-0

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Clase de fuente genómica:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Origen de la clase genómica:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Source génomique:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Classe fonte Genomica:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische bronklasse:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Classe da fonte Genomic:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Genetic variant source; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Srce; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геномный источник класс:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik kaynak sınıfı:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 基因组来源类:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 型 基因组来源类别 族;种类;等;类;类别;级;纲;组 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 源 血;血液

81304-8 Variant analysis method [Type]

Term Description

The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Structural variant analysis method
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method
*

Additional Names

Short Name
Struct var analysis method
Display Name
Structural variant analysis method Nom
Consumer Name Alpha Get Info
Structural variant analysis method

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4048-6

Answer Code Score Answer ID
Sequencing LA26398-0
Oligo aCGH LA26399-8
SNP array LA26400-4
BAC aCGH LA26401-2
Curated LA26402-0
Digital array LA26403-8
FISH LA26404-6
Gene expression array LA26405-3
Karyotyping LA26406-1
MAPH LA26407-9
MALDI-TOF LA26408-7
Merging LA26808-8
Multiple complete digestion LA26414-5
MLPA LA26415-2
Optical mapping LA26417-8
PCR LA26418-6
qPCR (real-time PCR) LA26419-4
ROMA LA26420-2
Denaturing high-pressure liquid chromatography (DHPLC) LA26809-6
DNA hybridization LA26810-4
Computational analysis LA26811-2
Single-stranded conformational polymorphism (SSCP) LA26812-0
Restriction fragment length polymorphism (RFLP) LA26813-8

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Método de análisis de variantes estructurales:Tipo:Punto temporal:^ Paciente:Nominal:*
es-ES Spanish (Spain) Métodos de análisis de la variante estrucutral:Tipo:Punto temporal:^paciente:Nom:*
fr-FR French (France) Variant structurel méthode d'analyse:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Metodo di analisi della variante strutturale:Tipo:Pt:^Paziente:Nom:*
Synonyms: Metodo di analisi Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异分析方法: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 方;法;办法;方式 时刻;随机;随意;瞬间 结构性变异;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体) 结构性变异分析方法;结构性遗传性变异(遗传变异、基因变异、传性变型、遗传变异体、基因变异体)分析方法

53037-8 Genetic variation clinical significance [Imp]

Term Description

Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic disease sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis seq var interp-Imp
Display Name
Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease sequence variation interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
11949

Preferred Answer List LL4034-6

Answer Code Score Answer ID
Pathogenic LA6668-3
Likely pathogenic LA26332-9
Uncertain significance LA26333-7
Likely benign LA26334-5
Benign LA6675-8

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la variación de la secuencia de la enfermedad genética:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Interpretación de la variante de secuencia de la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica, interpretazione variazione di sequenza:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione della variazione di sequenza di ma Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische ziekte sequentievariatie interpretatie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Doença genética interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетическое заболевание последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık sekans varyasyon yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传性疾病序列变异解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 病 症 血;血液 遗传性疾病(遗传疾病、遗传病、基因疾病)序列变异解释

69548-6 Genetic variant assessment

Term Description

Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic variant assessment
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genetic var assess
Display Name
Genetic variant assessment Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic variant assessment, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
13238

Preferred Answer List LL1971-2

Answer Code Score Answer ID
Present Copyright http://snomed.info/sct ID:52101004 Present (qualifier value) LA9633-4
Absent Copyright http://snomed.info/sct ID:2667000 Absent (qualifier value) LA9634-2
No call LA18198-4
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Evaluación de variantes genéticas:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Valoración de la variabilidad genética:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Variant génétique étudié:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Variante genetica, valutazione:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Valutazione di variante genetica
nl-NL Dutch (Netherlands) genetische variant evaluatie:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Variante genética avaliação:Achado:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Генетического варианта исследование:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik varyant değerlendirme:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传变异评估:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 评价;估计;估价;评论;估定;估算 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)评估(评价、估计、估价、评论、估定、估算);遗传变异体评估

81259-4 Associated phenotype

Term Description

The possible phenotype associated with the genetic variant found in this study.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Associated phenotype
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Prob assoc phenotype
Display Name
Associated phenotype
Consumer Name Alpha Get Info
Associated phenotype

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.71
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Fenotipo asociado:Hallazgo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Fenotipo asociado probable:Hallazgo:Punto temporal:^paciente:Nom:
fr-FR French (France) Phénotype associé:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Probabile fenotipo associato:Osservazione:Pt:^Paziente:Nom:
Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 关联表型:发现:时间点:^患者:名义型:
Synonyms: 关联(相关、所关联的、相关的)表型(表现型);可能(很可能)相关(关联)表型(表现型);可能相关表型 关联的 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 有联系的 相关的

53034-5 Allelic state

Term Description

The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Allelic state
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Allelic state
Display Name
Allelic state Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Allelic state, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.68
Order vs. Observation
Observation

Preferred Answer List LL381-5

Answer Code Score Answer ID
Heteroplasmic LA6703-8
Homoplasmic LA6704-6
Homozygous LA6705-3
Heterozygous LA6706-1
Hemizygous LA6707-9

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Statut allélique:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Stato allelico:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) allelstatus:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Estado alélicas:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аллельное состояние:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Allelik durum:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 等位状态:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 州;邦;政府;国家;状况;情况 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 等位基因状态 血;血液

81258-6 Sample variant allelic frequency [NFr]

Term Description

The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Sample variant allelic frequency
Property
NFr
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Sample VAF
Display Name
Sample variant allelic frequency
Consumer Name Alpha Get Info
Sample variant allelic frequency

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.73
Change Reason
Updated Component from "Allelic frequency" to clarify that this term represents the allelic frequency within a study sample, and corrected Term description to describe sample-level allelic frequency rather than population allelic frequency.
Order vs. Observation
Observation
Common Test Rank Get Info
8648

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Frecuencia alélica variante de muestra:Fracción numérica:Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Frecuencia alélica variante de muestra:Fracción numérica:Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Example de fréquence de variant allélique:Fraction de nombres:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Frequenza allelica della variante campione:NFr:Pt:^Paziente:Qn:
Synonyms: Frazione numerica Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 样品等位基因频率:计数型分数:时间点:^患者:定量型:
Synonyms: 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 对偶基因频率;基因位点频率 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 样品(标本、样本、试样)等位基因频率 频次;频度;频繁性;次数;频率分布;发生次数;周率;频繁程度

Example Units

Unit Source
% Example UCUM Units

82121-5 Allelic read depth

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allelic read depth
Property
Num
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Allelic read depth
Display Name
Allelic read depth [#]
Consumer Name Alpha Get Info
Allelic read depth

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Profundidad de lectura alélica:Número (recuento):Punto temporal:^ Paciente:Cuantitativo:
es-ES Spanish (Spain) Profundidad de lectura alélica:Número (recuento):Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
fr-FR French (France) Profondeur allélique:Nombre:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) profondità di lettura allelica:Num:Pt:^Paziente:Qn:
Synonyms: genomico, SNPs, polimorfismi Numero (conta) Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 等位基因读取深度:数量(计数):时间点:^患者:定量型:
Synonyms: 个数;数量;数量或计数(非负整数);计数 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 深 等位基因读取(测序、阅读)深度;等位基因测序深度;等位基因阅读深度

Example Units

Unit Source
{#} Example UCUM Units

82120-7 Allelic phase

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allelic phase
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Allelic phase
Display Name
Allelic phase Nom
Consumer Name Alpha Get Info
Allelic phase

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4025-4

Answer Code Score Answer ID
1st set of variants in cis relation to each other LA26814-6
2nd set of variants in cis relation to each other LA26815-3
3rd set of variants in cis relation to each other LA26816-1
4th set of variants in cis relation to each other LA26817-9
5th set of variants in cis relation to each other LA26818-7
Maternal LA26320-4
Paternal LA26321-2
Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) LA4489-6
Other, Please specify: LA46-8

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Fase alélica:Tipo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Fase alélica:Tipo:Punto temporal:^paciente:Nom:
fr-FR French (France) Phase allélique:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Fase allelica:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 等位基因类型: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 时刻;随机;随意;瞬间 等位基因类型(类、型、种类、状态、相位、phase)

82309-6 Basis for allelic phase [Type]

Part Descriptions

LP220487-5   Basis for allelic phase
The evidential basis on which the allelic phase and/or the allelic state was concluded.
Choices include:
1) Directly measured;
2) Family DNA;
3) Family history;
4) Inferred from population data Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Basis for allelic phase
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method
*

Additional Names

Short Name
Basis allelic phase
Display Name
Basis for allelic phase Nom
Consumer Name Alpha Get Info
Basis for allelic phase

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4050-2

Answer Code Score Answer ID
Directly measured LA26426-9
Family DNA LA26427-7
Family history LA26428-5
Inferred from population data LA26429-3

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Base para la fase alélica:Tipo:Punto temporal:^ Paciente:Nominal:*
es-ES Spanish (Spain) Bases para la fase alélica:Tipo:Punto temporal:^paciente:Nom:*
fr-FR French (France) Bases de la phase allélique:Type:Ponctuel:Patient:Résultat nominal:*
it-IT Italian (Italy) Fondamenti di fase allelica:Tipo:Pt:^Paziente:Nom:*
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) basis voor allelische fase:type:moment:^patiënt:nominaal:*
zh-CN Chinese (China) 等位基因相的依据: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 时刻;随机;随意;瞬间 等位基因相(状态、相位)的依据(根据、原因、缘由) 等位基因类型(类、型、种类、状态、相位、phase)

82118-1 Pharmacogenomics result panel

Fully-Specified Name

Component
Pharmacogenomics result panel
Property
-
Time
Pt
System
^Patient
Scale
-
Method

Additional Names

Short Name
Pharmg result pnl
Display Name
Pharmacogenomics result panel
Consumer Name Alpha Get Info
Pharmacogenomics result panel

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
7029
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de resultados de farmacogenómica:-:Punto temporal:^ Paciente:-:
es-ES Spanish (Spain) Panel de resultados farmacogenómicos:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
fr-FR French (France) Phamacogénomiques résultats panel:-:Ponctuel:Patient:-:
it-IT Italian (Italy) Risultati farmacogenomici, panel:-:Pt:^Paziente:-:
Synonyms: Panel risultati farmacogenomici Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
nl-NL Dutch (Netherlands) farmacogenomisch resultaat panel:-:moment:^patiënt:-:
zh-CN Chinese (China) 药物基因组学结果组套:-:时间点:^患者:-:
Synonyms: 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 药物基因组学(药理基因组学)结果组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目)

48018-6 Gene studied [ID]

Term Description

HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Gene identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Gene studied ID
Display Name
Gene studied Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Gene studied, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
9796

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
102118-7 Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method
102119-5 Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method
74028-2 Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de gen estudiado:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador genético:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Gène identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Gene, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) gen-identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificação do gene:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Ген идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gen tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 基因标识;基因 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 遗传基因;遗传因子;吉恩;生物基因

84413-4 Genotype display name

Fully-Specified Name

Component
Genotype display name
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Genotype name Patient
Display Name
Genotype display name Nom
Consumer Name Alpha Get Info
Genotype display name

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.72
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nombre para mostrar del genotipo:Hallazgo:Punto temporal:^ Paciente:Nominal:
es-ES Spanish (Spain) Nombrepara mostrar el genotipo:Hallazgo:Punto temporal:^paciente:Nom:
fr-FR French (France) Génotype nom:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Gentotipo, nome di visualizzazione:Osservazione:Pt:^Paziente:Nom:
Synonyms: Nome di visualizzazione del genotipo Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 基因型显示名称:发现: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 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 基因型(遗传型)显示名称(显示名字、显示名) 姓名;名字;名 时刻;随机;随意;瞬间

53040-2 Genetic variation's effect on drug metabolism

Term Description

Predicted phenotype for drug efficacy. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the Clinical Pharmacogenetics Implementation Consortium (CPIC). The previous answer list number was LL609-9, and three of the answer strings and LA codes are the same in the new list (ultrarapid metabolizer, intermediate metabolizer, and poor metabolizer). In the new answer list, the extensive metabolizer answer (LA10316-0) from LL609-9 has been replaced with two new answers (rapid metabolizer, normal metabolizer). LA10316-0 is still a valid LA code for the "extensive metabolizer" answer string.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Drug metabolism sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
Drug metab seq var interp-Imp
Display Name
Drug metabolism sequence variation interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Drug metabolism sequence variation interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated Long Common Name based on the HL7 Clinical Genomics Implementation guide; Corrected Scale from "Nom" to "Ord" since results are ordinal.
Order vs. Observation
Observation
Common Test Rank Get Info
11135

Preferred Answer List LL3856-3

Answer Code Score Answer ID
Ultrarapid metabolizer LA10315-2
Rapid metabolizer LA25390-8
Normal metabolizer LA25391-6
Intermediate metabolizer LA10317-8
Poor metabolizer LA9657-3

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la variación de la secuencia del metabolismo de los fármacos:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ES Spanish (Spain) Interpretación de la variante de secuencia en el metabolismo de drogas:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
fr-FR French (France) Métabolisme du médicament interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Farmaci, interpretazione variazione sequenza metabolismo:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione di variazione di sequenza del meta Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) geneesmiddelmetabolisme volgorde variatie interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Metabolismo de droga interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Drug metAc seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Drugs; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Лекарство метаболизм последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) İlaç metabolizması dizisi değişkenliği yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) 药物代谢 序列变异解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 毒品 毒品;麻醉药;麻醉品;麻药;兴奋剂;药品 毒品类 药品类 药物 药物类 血;血液

51961-1 Genetic variation's effect on drug efficacy

Term Description

Predicted phenotype for ability of drug to bind to intended site in order to deliver intended affect. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

<