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62356-1 Chromosome analysis result in ISCN expression

Term Description

The chromosome analysis result, which is expressed using the International System for Human Cytogenetics Nomenclature (ISCN).

Observation Required in Panel

Required

Fully-Specified Name

Component
Chromosome analysis result in ISCN expression
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Basic Attributes

Class
HL7.CYTOGEN
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Observation
Common Test Rank Get Info
6252

Member of these Panels

LOINCLong Common Name
77314-3Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics
62389-2Chromosome analysis master panel
93357-2Monotypic plasma cell identification and risk stratification panel - Bone marrow by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Chromozomy analýza výsledek v expresi ISCN:Nález:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Αποτέλεσμα χρωμοσωμικής ανάλυσης στην έκφραση του ISCN:Εύρεση:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.CYTOGEN Nom Pt Αίμα Αίμα/Ιστός Ανάλυση χρωμοσωμάτων Αποτέλεσμα χρωμοσωμικής ανάλυσης στην έκφραση του ISCN Εύρεση Ιστός Μοριακή γενετική Χρωμόσωμα
es-ESSpanish (Spain)Análisis cromosómico resultados según la nomenclatura ISCN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)El análisis de cromosomas da como resultado la expresión de ISCN:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Analyse chromosome résultat (ISCN):Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Risultato analisi cromosomica in nomenclatura ISCN:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di citogenetica Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)chromosoomanalyse resultaat in ISCN expressie:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Wynik badania chromosomów wyrażony w nomenklaturze ISCN:stwierdzenie:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Kariotypowanie Wynik badania chromosomów wyrażony w ISCN (międzynarodowy system nazewnictwa cytogenetycznego) wynik kategorialny
ru-RURussian (Russian Federation)Хромосомный анализ результаты в ISCN выражении:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент Хромосомного анализа результаты в ISCN записи
tr-TRTurkish (Turkey)Kromozom analizi ISCN ekspresyonu ile sonuç:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)采用ISCN表达的染色体分析结果: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 细胞遗传学 International System for Human Cytogenetics Nomenclature;ISCN;国际人类细胞遗传学术语命名法;人类细胞遗传学国际命名体制;采用人类细胞遗传学国际命名体制表达的染色体分析结果 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体二体型+染色体三体型 血;血液

62357-9 Chromosome analysis overall interpretation Qualitative

Term Description

The overall interpretation of a chromosome analysis test.

Observation Required in Panel

Required

Fully-Specified Name

Component
Chromosome analysis overall interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Basic Attributes

Class
HL7.CYTOGEN
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Observation
Common Test Rank Get Info
3717

Normative Answer List LL1034-9

AnswerCodeScoreAnswer ID
Normal Copyright http://snomed.info/sct ID:17621005 Normal (qualifier value)LA6626-1
Abnormal Copyright http://snomed.info/sct ID:263654008 Abnormal (qualifier value)LA12748-2
Clinical significance unknownLA14007-1

Member of these Panels

LOINCLong Common Name
62389-2Chromosome analysis master panel
93357-2Monotypic plasma cell identification and risk stratification panel - Bone marrow by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Chromosomy analýza celková interpretace:Interpretace:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γενική ερμηνεία χρωμοσωμικής ανάλυσης:Imp:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: HL7.CYTOGEN Imp Ord Pt Αίμα Αίμα/Ιστός Ανάλυση χρωμοσωμάτων Γενική ερμηνεία χρωμοσωμικής ανάλυσης Ερμηνεία Ιστός Μοριακή γενετική Χρωμόσωμα
es-ESSpanish (Spain)Análisis cromosómico interpretación general:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Interpretación general del análisis cromosómico:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)Analyse chromosome interprétation globale:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)Analisi cromosomica, interpretazione generale:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione generale di analisi cromosomica Punto nel tempo (episodio) Referto clinico di citogenetica Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)chromosoomanalyse algehele interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Badanie chromosomów interpretacja ogólna:ocena:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Kariotypowanie Ogólna interpretacja kariotypowania
ru-RURussian (Russian Federation)Хромосомный анализ общая интерпретация:Впчт:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Kromozom analizi genel yourm:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
uk-UAUkrainian (Ukraine)Хромосомний аналіз агальна інтерпретація:Інтерпретація:МоментЧасу:Кров/Тканини:Порядково:Молекулярна генетика
Synonyms: Blood; Chrom analy; Chrom analy overall interp; Chromosom; Chromosomes; Cytogenetics; HL7.CYTOGEN; Impression; Impression/interpretation of study; Impressions; Interp; Interpret; Interpretation; Interpt; Intrp; Karyotype; Molecular genetics; Ordinal; PCR; Point in time; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
zh-CNChinese (China)染色体分析总体解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: HL7 细胞遗传学 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 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 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 染色体二体型+染色体三体型 染色体分析整体解释;染色体分析全面解释;染色体分析总体（整体、宏观、大体、概括）解释（说明、阐释、诠释） 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

Required

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

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

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Genetické onemocnění hodnocené:Identifikátor:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Αξιολογούμενη γενετική νόσος:Αναγνωριστικό:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Αναγνωριστικό Αξιολογηθείσα νόσος Αξιολογούμενη γενετική νόσος Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Valoracion de enfermedades geneticas:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Enfermedad genética evaluada:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Maladie génétique étudiée:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)genetische ziekte onderzocht:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Oceniona choroba genetyczna:identyfikator:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)Genetik hastalık değerlendirilmiş:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (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

51969-4 Genetic analysis report

Term Description

Narative report in disease diagnostic-based format.

Observation Required in Panel

Required

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

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Genetická analýza popisná zpráva:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Συνοπτική έκθεση γενετικής ανάλυσης:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc HL7.GENETICS Pt Αίμα Αίμα/Ιστός Αναφορά Εύρεση Ιστός Μοριακή γενετική Συνοπτική έκθεση γενετικής ανάλυσης
es-ESSpanish (Spain)Informe de enfemedades genéticas:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Informe resumido del análisis genético:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)Compte rendu de génétique:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
fr-CAFrench (Canada)Rapport sommaire d'analyse génétique:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
it-ITItalian (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-NLDutch (Netherlands)genetische analyse beknopt report:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Raport podsumowujący analizę genetyczna:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)Genetik analizi summary report:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (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