Version 2.78

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-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

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

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-ES Spanish (Spain) Identificador de secuencia de referencia genómica:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Identificador de secuencia de referencia genómica:Identificador:Punto temporal:Sangre o tejido:Nominal:
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

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

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-ES Spanish (Spain) Identificador de secuencia de referencia transcrita:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Identificador de secuencia de referencia de la transcripción:Identificador:Punto temporal:Sangre o tejido:Nominal:
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

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

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

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-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

78044-5 Disease assessed [Identifier] Blood or Tissue

Fully-Specified Name

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

Additional Names

Short Name
Disease assessed Bld/T

Basic Attributes

Class
CLIN
Type
Clinical
First Released
Version 2.54
Last Updated
Version 2.54
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
77314-3 Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad evaluada:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Enfermedad evaluada:ID:Punto temporal:Bld / Tiss:Nominal:
it-IT Italian (Italy) Malattia valutata:ID:Pt:Sangue/Tess:Nom:
Synonyms: Clinico Identificatore Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 所评估的疾病: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 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

78045-2 Disease analysis overall interpretation Blood or Tissue Narrative

Fully-Specified Name

Component
Disease analysis overall interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nar
Method

Additional Names

Short Name
Disease anl overall imp Bld/T

Basic Attributes

Class
CLIN
Type
Clinical
First Released
Version 2.54
Last Updated
Version 2.63
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
77314-3 Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Interpretación global del estudio de la enfermedad:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:
es-MX Spanish (Mexico) Interpretación general del análisis de enfermedades:Interpretación:Punto temporal:Bld / Tiss:Narrativo:
it-IT Italian (Italy) Malattia interpretazione generale analisi:Imp:Pt:Sangue/Tess:Nar:
Synonyms: Clinico Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 疾病分析总体解释:印象:时间点:全血/组织:叙述型:
Synonyms: 全血或组织;血液/组织;血液或组织 全面;整体;总体情况 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 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 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