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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.

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73 (MIN)
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

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)DNA změna:Nález:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Αλλαγή DNA:Εύρεση:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: DNA HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Αλλαγή DNA Εύρεση Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Cambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Cambio de ADN:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)ADN variation:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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
pl-PLPolish (Poland)Zmiana w DNA:stwierdzenie:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Kwas deoksyrybonukleinowy wynik kategorialny
pt-BRPortuguese (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-CNChinese (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

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.

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.64 (NAM)
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 LL379-9

AnswerCodeScoreAnswer ID
Wild typeLA9658-1
DeletionLA6692-3
DuplicationLA6686-5
InsertionLA6687-3
Insertion/DeletionLA6688-1
InversionLA6689-9
SubstitutionLA6690-7

Member of these Panels

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)DNA změna typ:Typ:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Τύπος αλλαγής DNA:Type:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: DNA HL7.GENETICS Nom Pt Type Αίμα Αίμα/Ιστός Αλλαγή DNA Ιστός Μοριακή γενετική Τύπος αλλαγής DNA
es-ESSpanish (Spain)Tipo de cambio del ADN:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Tipo de cambio de ADN:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CAFrench (Canada)Type de variation de l'ADN:Type:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FRFrench (France)ADN type de variation:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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
pl-PLPolish (Poland)Typ zmiany DNA:typ:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Kwas deoksyrybonukleinowy Rodzaj zmiany w DNA wynik kategorialny
pt-BRPortuguese (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-CNChinese (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

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.

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
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
4958

Member of these Panels

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Aminokyselina změna:Nález:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Αλλαγή αμινοξέων:Εύρεση:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Αλλαγή αμινοξέων Εύρεση Ιστός Μοριακή γενετική
es-ESSpanish (Spain)cambio aminoacídico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Cambio de aminoácidos:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Acides aminés substitués:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)aminozuurwijziging:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Zmiana aminokwasu:stwierdzenie:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)Amino asit değişimi:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (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

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.

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

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

Basic Attributes

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

Preferred Answer List LL380-7

AnswerCodeScoreAnswer ID
Wild typeLA9658-1
DeletionLA6692-3
DuplicationLA6686-5
FrameshiftLA6694-9
Initiating MethionineLA6695-6
InsertionLA6687-3
Insertion and DeletionLA9659-9
MissenseLA6698-0
NonsenseLA6699-8
SilentLA6700-4
Stop Codon MutationLA6701-2

Member of these Panels

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Aminokyselina změna typ:Typ:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Τύπος αλλαγής αμινοξέων:Type:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.GENETICS Nom Pt Type Αίμα Αίμα/Ιστός Αλλαγή αμινοξέων Ιστός Μοριακή γενετική Τύπος αλλαγής αμινοξέων
es-ESSpanish (Spain)Tipo de cambio aminoacídico:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Tipo de cambio de aminoácidos:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Acides aminés type de substitution:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)aminozuurwijzigingstype:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen soort
pl-PLPolish (Poland)Typ zmiany aminokwasu:typ:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)Amino asit değişimi tipi:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CNChinese (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

47997-2 Genetic variant clinical significance [Interpretation] in Blood or Tissue by Molecular genetics method

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Genetic variant clinical significance
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Observation
Common Test Rank Get Info
18483

Normative Answer List LL377-3

AnswerCodeScoreAnswer ID
PathogenicLA6668-3
Presumed PathogenicLA6669-1
Novel Presumed PathogenicLA6670-9
Novel Unknown SignificanceLA6671-7
Novel Presumed BenignLA6672-5
NovelLA6673-3
Presumed BenignLA6674-1
BenignLA6675-8
ResistantLA6676-6
ResponsiveLA6677-4
Novel Presumed Non-ResponsiveLA6678-2
Novel Presumed ResponsiveLA6679-0
UnclassifiedLA6680-8
PolymorphismLA6681-6
Unknown SignificanceLA6682-4

Member of these Panels

LOINCLong Common Name
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Genetická varianta klinický význam:Interpretace:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Κλινική σημασία γενετικής παραλλαγής:Imp:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Imp MISC MOLPATH MOLPATH.MISC Nom Pt Αίμα Αίμα/Ιστός Ιστός Κλινική σημασία γενετικής παραλλαγής Μοριακή γενετική
es-ESSpanish (Spain)Significado clínico de variante genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Importancia clínica de la variante genética:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Variant génétique signification clinique:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Variante genetica, significato clinico:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Significato clinico di variante genetica Tessuto & Strisci
nl-NLDutch (Netherlands)genetische variant klinische significantie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Wariant geneteczny klinicznie istotny:ocena:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Wariant genteczny o klinicznej istotności wynik kategorialny
pt-BRPortuguese (Brazil)Significado da variação genética clínica:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Genetic variant clin sig; Variant Interpretation; Interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Molecular pathology
ru-RURussian (Russian Federation)Генетический вариант клиническая значимость:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Genetik varyant klinik anlamlılık:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)遗传变异临床意义:印象: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 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 杂项;杂项类;杂项试验 血;血液 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）临床意义;变型解释;遗传性变型临床意义;遗传变异临床意义;遗传变异体临床意义

47998-0 DNA sequence variation display name [Text] Narrative

Term Description

Thumbnail "textual display" convention of a single DNA Marker and its interpretation.

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
DNA sequence variation display name
Property
Txt
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
Molgen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.56 (MIN)
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
51960-3DNA marker results panel
55233-1Genetic analysis master panel
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)DNA sekvenční varianta zobrazovaný název:Text:Časový bod:Krev/tkáň:Narativní:Molekulární genetika
el-GRGreek (Greece)Όνομα εμφάνισης παραλλαγής αλληλουχίας DNA:Txt:Pt:Αίμα/Ιστός:Nar:Μοριακή γενετική
Synonyms: DNA HL7.GENETICS Nar Pt Txt Αίμα Αίμα/Ιστός Ιστός Μοριακή γενετική Όνομα Όνομα εμφάνισης παραλλαγής αλληλουχίας DNA
es-ESSpanish (Spain)Nombre de la variante de secuencia de ADN:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
Synonyms: Cambio ADN
es-MXSpanish (Mexico)Nombre para mostrar de la variación de la secuencia de ADN:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
fr-FRFrench (France)ADN nom de la variation de séquence:Texte:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-ITItalian (Italy)DNA, display name variazione sequenza:Txt:Pt:Sangue/Tess:Nar:Molgen
Synonyms: Genetica molecolare Nome visualizzato di variazione di sequenza del DN Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Testo Variazione di sequenza del DNA
nl-NLDutch (Netherlands)DNA weergave van de naam van de sequentievariatie:tekst:moment:bloed of weefsel:tekstueel:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Wyświetlana nazwa wariantów sekwencji DNA:tekst:punkt w czasie:krew lub tkanka:opisowy:genetyka molekularna
Synonyms: diagnostyka molekularna Kwas deoksyrybonukleinowy Nazwa zmiany w sekwencji DNA
pt-BRPortuguese (Brazil)Nome da sequência de DNA a apresentar variação:Txt:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: ; DNA seq var display name; Genetic variant for display; DNA change; Deoxyribonucleic acid; Text; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RURussian (Russian Federation)ДНК последовательность вариация отображаемое наименование:Txt:ТчкВрм:Кр/Тк:Опис:МолГен
Synonyms: Кровь Кровь или Ткань Описательный Текст Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)DNA sekans varyasyonu görünen adı:Metin:Zmlı:Kan/Dk:Öykü:Molgen
zh-CNChinese (China)DNA 序列变异显示名称: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 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 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 姓名;名字;名 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 血;血液

48002-0 Genomic source class [Type]

Term Description

The genomic class of the variant: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

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

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.82 (MIN)
Order vs. Observation
Observation
Common Test Rank Get Info
14631

Preferred Answer List LL378-1

AnswerCodeScoreAnswer ID
GermlineLA6683-2
SomaticLA6684-0
FetalLA10429-1
Likely germlineLA18194-3
Likely somaticLA18195-0
Likely fetalLA18196-8
Unknown genomic originLA18197-6
De novoLA26807-0

Member of these Panels

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Genomový zdroj třída:Typ:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Κατηγορία γονιδιωματικής πηγής:Type:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.GENETICS Nom Pt Type Αίμα Αίμα/Ιστός Ιστός Κατηγορία Κατηγορία γονιδιωματικής πηγής Μοριακή γενετική
es-ESSpanish (Spain)Origen de la clase genómica:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Clase de fuente genómica:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Source génomique:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)genomische bronklasse:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Klasa zasobów genomowych:typ:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Kategoria zasobów genomicznych wynik kategorialny
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)Genomik kaynak sınıfı:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CNChinese (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

48007-9 Genetic variant allelic state [Type] in Blood or Tissue by Molecular genetics method

Term Description

Example answer: 1^Heteroplasmic ^LA
Definition: When information about the state of each of the paired genes is important (e.g. because it may only have an effect if homozygous) - report that information here

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Genetic variant allelic state
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.26 (MIN)
Order vs. Observation
Observation

Normative Answer List LL381-5

AnswerCodeScoreAnswer ID
HeteroplasmicLA6703-8
HomoplasmicLA6704-6
HomozygousLA6705-3
HeterozygousLA6706-1
HemizygousLA6707-9

Member of these Panels

LOINCLong Common Name
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Genetická varianta stav alel:Typ:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Κατάσταση αλληλόμορφων γενετικών παραλλαγών:Type:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MISC MOLPATH MOLPATH.MISC Nom Pt Type Αίμα Αίμα/Ιστός Ιστός Κατάσταση Κατάσταση αλληλομόρφων Κατάσταση αλληλόμορφων γενετικών παραλλαγών Μοριακή γενετική
es-ESSpanish (Spain)Variante genético estado alélico:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Estado alélico de variante genética:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Variant génétique état allélique:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Variante genetica, stato allelico:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Stato allelico di variante genetica Tessuto & Strisci
nl-NLDutch (Netherlands)genetische variant allelische status:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Status alleliczny wariantu genetycznego:typ:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (Brazil)Estado da variação genética alélica: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; Molecular pathology
ru-RURussian (Russian Federation)Генетический вариант аллельное состояние:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Genetik varyant allelik durum:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CNChinese (China)遗传变异等位基因状态:类型: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 型 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 杂项;杂项类;杂项试验 等位基因状态 血;血液 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）等位基因状态;遗传变异等位基因状态;遗传变异体等位基因状态

48003-8 DNA sequence variation identifier [Identifier]

Term Description

A DNA Marker identifier conveys a universal or standard repository identifier for definitive characterstics of a DNA Marker. (recommend using NCBI dbSNP ids - rs#)

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
DNA sequence variation identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

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
14222

Member of these Panels

LOINCLong Common Name
53042-8DNA marker assessed panel
53044-4DNA marker identified panel
51960-3DNA marker results panel
55233-1Genetic analysis master panel
48015-2Individual allele panel
51975-1Individual allele results panel
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)DNA sekvenční varianta identifikátor:Identifikátor:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Αναγνωριστικό παραλλαγής αλληλουχίας DNA:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: DNA HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Αναγνωριστικό Αναγνωριστικό παραλλαγής αλληλουχίας DNA Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Identificador variante de secuencia de ADN:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
Synonyms: Cambio ADN
es-MXSpanish (Mexico)Identificador de variación de secuencia de ADN:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)ADN identifiant de la variation de séquence:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)DNA, identificatore variazione sequenza:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Identificatore di variazione di sequenza del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Variazione di sequenza del DNA
nl-NLDutch (Netherlands)DNA sequentievariatie identificator:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Identyfikator wariantów sekwencji DNA:identyfikator:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Kwas deoksyrybonukleinowy wynik kategorialny
pt-BRPortuguese (Brazil)Identificador de variação da seqüência do DNA:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var ID; Genetic variant ID; DNA change; Deoxyribonucleic acid; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RURussian (Russian Federation)ДНК последовательность вариация идентификатор:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)DNA sekans varyasyonu tanımalayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)DNA 序列变异标识符: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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA） 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

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

Optional

Type of Entry

Question expects user entry - requires response [Q]

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

LOINCLong Common Name
77313-5DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8DNA marker assessed panel
53044-4DNA marker identified panel
51960-3DNA marker results panel
55233-1Genetic analysis master panel
111577-3Hematologic malignancy gene fusion panel - Specimen by Molecular genetics method
48015-2Individual allele panel
51975-1Individual allele results panel
81247-9Master HL7 genetic variant reporting panel
78046-0Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
102118-7Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method
48017-8Sequencing methodology panel - Blood or Tissue by Molecular genetics method
102119-5Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method
74028-2Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen zkoumaný identifikátor:Identifikátor:Časový bod:Krev/tkáň:Nominální:
el-GRGreek (Greece)Αναγνωριστικό γονιδίου:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:
Synonyms: HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Αναγνωριστικό Αναγνωριστικό γονιδίου Γονίδιο Ιστός
es-ESSpanish (Spain)Identificador genético:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MXSpanish (Mexico)Identificador de gen estudiado:Identificador:Punto temporal:Sangre o tejido:Nominal:
fr-FRFrench (France)Gène identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-ITItalian (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-NLDutch (Netherlands)gen-identificator:identificator:moment:bloed of weefsel:nominaal:
pl-PLPolish (Poland)Identyfikator genu:identyfikator:punkt w czasie:krew lub tkanka:skala nominalna:
Synonyms: wynik kategorialny
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)Gen tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CNChinese (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

47999-8 DNA region name [Identifier]

Term Description

A human readable name for the region of interest. Typically Exon #, Intron # or other. NOTE: This is not standardized and is mainly for convenience and display purposes.

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

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

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
16923

Member of these Panels

LOINCLong Common Name
53042-8DNA marker assessed panel
53044-4DNA marker identified panel
51960-3DNA marker results panel
55233-1Genetic analysis master panel
48015-2Individual allele panel
51975-1Individual allele results panel
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method
48017-8Sequencing methodology panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)DNA oblast název:Identifikátor:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Όνομα περιοχής DNA:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: DNA HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Αναγνωριστικό Ιστός Μοριακή γενετική Όνομα Όνομα περιοχής DNA Περιοχή
es-ESSpanish (Spain)Nombre de la región de ADN:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Nombre de la región de ADN:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)ADN nom de la région:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)DNA, nome regione:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Nome di regione del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)DNA regionaam:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Nazwa regionu DNA:identyfikator:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Identyfikator ocenianego regionu DNA Kwas deoksyrybonukleinowy wynik kategorialny
pt-BRPortuguese (Brazil)Nome da região do DNA:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Gene region; Deoxyribonucleic acid; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RURussian (Russian Federation)ДНК зона наименование:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)DNA bölge adı:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)DNA 区域名称: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 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） 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

48000-4 Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

Term Description

A number from 1 to 22, X or Y identifying the chromosome in which the gene or region of interest resides.

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

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

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73 (MIN)
Change Reason
Component name was confusing since sex chromosomes (X & Y) are not numbers. Updated description for more clarification and added an answer list.
Order vs. Observation
Observation
Common Test Rank Get Info
7755

Example Answer List LL2938-0

AnswerCodeScoreAnswer ID
Chromosome 1LA21254-0
Chromosome 2LA21255-7
Chromosome 3LA21256-5
Chromosome 4LA21257-3
Chromosome 5LA21258-1
Chromosome 6LA21259-9
Chromosome 7LA21260-7
Chromosome 8LA21261-5
Chromosome 9LA21262-3
Chromosome 10LA21263-1
Chromosome 11LA21264-9
Chromosome 12LA21265-6
Chromosome 13LA21266-4
Chromosome 14LA21267-2
Chromosome 15LA21268-0
Chromosome 16LA21269-8
Chromosome 17LA21270-6
Chromosome 18LA21271-4
Chromosome 19LA21272-2
Chromosome 20LA21273-0
Chromosome 21LA21274-8
Chromosome 22LA21275-5
Chromosome XLA21276-3
Chromosome YLA21277-1

Member of these Panels

LOINCLong Common Name
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Chromozom:Identifikátor:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Χρωμόσωμα:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MISC MOLPATH MOLPATH.MISC Nom Pt Αίμα Αίμα/Ιστός Αναγνωριστικό Ιστός Μοριακή γενετική Χρωμόσωμα
es-ESSpanish (Spain)Cromosoma:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Cromosoma:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Chromosome:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Cromosoma: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
nl-NLDutch (Netherlands)chromosoom:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Chromosom:identyfikator:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (Brazil)Número do cromossomo:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Num; No; Chromosomes; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Chromosom; Molecular pathology
ru-RURussian (Russian Federation)Хромосома:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Kromozom:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)染色体: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 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 标识;身份标识符;身份标识 血;血液

48001-2 Cytogenetic (chromosome) location

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

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

Basic Attributes

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

Member of these Panels

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Lokalizace cytogenetická:Identifikátor:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Χρωμοσωμική περιοχή:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MISC MOLPATH MOLPATH.MISC Nom Pt Αίμα Αίμα/Ιστός Αναγνωριστικό Ιστός Μοριακή γενετική Περιοχή Χρωμόσωμα Χρωμοσωμική περιοχή
es-ESSpanish (Spain)Región cromosómica:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Región cromosómica:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Chromosome région:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-KRKorean (Korea, Republic Of)염색체 부위:확인자:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)chromosoomgebied:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Region chromosomowy:identyfikator:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)Kromozom bölgesi:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (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