Version 2.80

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.

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.73 (MIN)
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
el-GR Greek (Greece) Λόγος συμπληρωματικής σημείωσης μελέτης:Txt:Pt:Αίμα/Ιστός:Nar:Μοριακή γενετική
Synonyms: Txt Λόγος μελέτης Λόγος συμπληρωματικής σημείωσης μελέτης Μελέτη Σημείωση
es-ES Spanish (Spain) Razón para el estudio de notas complementarias:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-MX Spanish (Mexico) Razón del estudio nota adicional: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.

Observation Required in Panel

Optional

Fully-Specified Name

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58 (MIN)
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
el-GR Greek (Greece) Αξιολογούμενη γενετική νόσος:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Αναγνωριστικό Αξιολογηθείσα νόσος Αξιολογούμενη γενετική νόσος
es-ES Spanish (Spain) Valoracion de enfermedades geneticas:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Enfermedad genética evaluada:Identificador:Punto temporal:Sangre o tejido:Nominal: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)

Observation Required in Panel

Conditional

Fully-Specified Name

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58 (MIN)
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
el-GR Greek (Greece) Αξιολογούμενη φαρμακευτική αγωγή:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Αναγνωριστικό Αξιολογούμενη φαρμακευτική αγωγή Φαρμακευτική αγωγή
es-ES Spanish (Spain) Medicacion evaluada:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Medicación evaluada:Identificador:Punto temporal:Sangre o tejido:Nominal: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.

Observation Required in Panel

Conditional

Fully-Specified Name

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73 (MIN)
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
el-GR Greek (Greece) Αναγνωριστικό γονιδίου:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:
Synonyms: Αναγνωριστικό Αναγνωριστικό γονιδίου Γονίδιο
es-ES Spanish (Spain) Identificador genético:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Identificador de gen estudiado:Identificador:Punto temporal:Sangre o tejido:Nominal:
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.

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

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.73 (MIN)
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
el-GR Greek (Greece) Γονίδιο εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Prid Γονίδιο Μεταλλάξεις
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
es-MX Spanish (Mexico) Mutaciones genéticas probadas:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
fr-CA French (Canada) Gène, Mutations testées:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
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].

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58 (MIN)
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
el-GR Greek (Greece) Περιοχή ενδιαφέροντος DNA:NumRange:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: DNA NumRange Περιοχή Περιοχή ενδιαφέροντος Περιοχή ενδιαφέροντος DNA
es-ES Spanish (Spain) Region de interes del ADN:Rango numérico:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Región de ADN de interés:NumRange:Punto temporal:Sangre o tejido:Nominal: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.

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

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58 (MIN)
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
el-GR Greek (Greece) Εύρος(η) εξεταζόμενων αλληλουχιών DNA:Txt:Pt:^Ασθενής:Nar:
Synonyms: DNA S Txt Εύρος(η) εξεταζόμενων αλληλουχιών DNA
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.

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73 (MIN)
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
el-GR Greek (Greece) Γενική ερμηνεία ανάλυσης γενετικής νόσου:Imp:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Imp Γενική ερμηνεία ανάλυσης γενετικής νόσου Γενική ερμηνεία ανάλυσης νόσου Ερμηνεία
es-ES Spanish (Spain) Interpretación general del análisis en la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Interpretación general del análisis de enfermedades genéticas:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal: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

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58 (ADD)
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
el-GR Greek (Greece) Γενική ερμηνεία διαγραφής-διπλασιασμού:Imp:Pt:^Ασθενής:Nom:
Synonyms: Imp Γενική ερμηνεία διαγραφής-διπλασιασμού Ερμηνεία
es-ES Spanish (Spain) Interpretación general de deleción-duplicación:Impresión/interpretación del estudio:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Interpretación general de supresión-duplicación:Impresión / interpretación del estudio:Punto temporal:^ Paciente:Nominal:
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.

Observation Required in Panel

Optional

Fully-Specified Name

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73 (MIN)
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
el-GR Greek (Greece) Συνοπτική έκθεση γενετικής ανάλυσης:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Αναφορά Εύρεση Συνοπτική έκθεση γενετικής ανάλυσης
es-ES Spanish (Spain) Informe de enfemedades genéticas:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Informe resumido del análisis genético:Hallazgo:Punto temporal:Sangre o tejido:Documento: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.

Observation Required in Panel

Conditional

Fully-Specified Name

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

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58 (MIN)
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
el-GR Greek (Greece) Όνομα ISCN δομικής παραλλαγής:Εύρεση:Pt:^Ασθενής:Nom:
Synonyms: Δομική παραλλαγή Εύρεση Όνομα Όνομα ISCN δομικής παραλλαγής
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.

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

Basic Attributes

Class
HL7.CYTOGEN
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.64 (MIN)
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
el-GR Greek (Greece) Αριθμός δημοσίευσης ανθρώπινης ακολουθίας αναφοράς:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Ακολουθία αναφοράς Αναγνωριστικό Αριθμός Αριθμός δημοσίευσης ανθρώπινης ακολουθίας αναφοράς
es-ES Spanish (Spain) Identificador único de registro de secuencia humana de referencia NCBI:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Número de versión del conjunto de secuencia de referencia humana:Identificador:Punto temporal:Sangre o tejido:Nominal: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.

Observation Required in Panel

Optional

Fully-Specified Name

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

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58 (MIN)
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
el-GR Greek (Greece) Έκδοση HGVS:Αναγνωριστικό:Pt:^Ασθενής:Nom:
Synonyms: Αναγνωριστικό Έκδοση Έκδοση HGVS
es-ES Spanish (Spain) Versión HGVS:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Versión HGVS:Identificador:Punto temporal:^ Paciente:Nominal:
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

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58 (MIN)
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
el-GR Greek (Greece) έκδοση dbSNP:Αναγνωριστικό:Pt:^Ασθενής:Nom:
Synonyms: dbSNP Αναγνωριστικό Έκδοση έκδοση dbSNP
es-ES Spanish (Spain) Versión dbSNP (base de datos de polimorfismos de nucleótido simple):Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) versión dbSNP:Identificador:Punto temporal:^ Paciente:Nominal:
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

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58 (ADD)
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
el-GR Greek (Greece) Έκδοση COSMIC:Αναγνωριστικό:Pt:^Ασθενής:Nom:
Synonyms: Αναγνωριστικό Έκδοση Έκδοση COSMIC
es-ES Spanish (Spain) Versión COSMIC:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Versión COSMIC:Identificador:Punto temporal:^ Paciente:Nominal:
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

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58 (ADD)
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
el-GR Greek (Greece) Έκδοση ClinVar:Αναγνωριστικό:Pt:^Ασθενής:Nom:
Synonyms: Αναγνωριστικό Έκδοση Έκδοση ClinVar
es-ES Spanish (Spain) Versión ClinVar:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Versión ClinVar:Identificador:Punto temporal:^ Paciente:Nominal:
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