55208-3
DNA analysis discrete sequence variation panel
Active
48018-6 Gene studied [ID]
Term Description
HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
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: |
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| fr-FR | French (France) | Gène identifiant: |
| it-IT | Italian (Italy) | Gene, identificatore: Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | gen-identificator: |
| pt-BR | Portuguese (Brazil) | Identificação do gene: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ген идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gen tanımlayıcı: |
| zh-CN | Chinese (China) | 基因标识符: Synonyms: HL7 遗传学 全血或组织; |
48013-7 Genomic reference sequence [ID]
Term Description
This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genomic reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Genomic reference sequence ID
- Display Name
- Genomic reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genomic reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia genómica: |
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia genómica: |
| fr-FR | French (France) | Séquence de référence génomique identifiant: |
| it-IT | Italian (Italy) | Sequenza di riferimento genomica, identificatore: Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genomische referentie sequentie identificator: |
| pt-BR | Portuguese (Brazil) | Identificador da sequência de referência Genomic: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Геном референсная последовательность идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genomik referans sekans tanımlayıcı: |
| zh-CN | Chinese (China) | 基因组参考序列标识符: Synonyms: HL7 遗传学 全血或组织; |
51958-7 Transcript reference sequence [ID]
Term Description
This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Transcript reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Transcript ref sequence ID
- Display Name
- Transcript reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Transcript reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14335
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia transcrita: |
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia de la transcripción: |
| fr-FR | French (France) | Séquence de référence du transcript identifiant: |
| it-IT | Italian (Italy) | Trascrizione, identificatore sequenza di riferimento: Synonyms: Identificatore Identificatore di sequenza di riferimento di trasc Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | transcriptie referentiesequentie identificator: |
| pt-BR | Portuguese (Brazil) | Transcrição identificador seqüência de referência: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Транскрипт референсная последовательность идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Transkript referans sekans tanımlayıcı: |
| zh-CN | Chinese (China) | 转录物参考序列标识符: Synonyms: HL7 遗传学 全血或组织; |
48008-7 Allele name [Identifier]
Term Description
The published and commonly used name for a gene allele is recommended. For unpublished or non-established alleles, logical assumptions and conventions may be used.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allele name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Allele name
- Display Name
- Allele name Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Allele name, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre de alelo: |
| es-MX | Spanish (Mexico) | Nombre de alelo: |
| fr-FR | French (France) | Nom de l'allèle: |
| it-IT | Italian (Italy) | Allele, nome: Synonyms: Genetica molecolare Identificatore Nome di allele Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | allelnaam: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nome do alelo: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Аллель наименование: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Allel adı: |
| zh-CN | Chinese (China) | 等位基因名称: Synonyms: HL7 遗传学 全血或组织; |
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#)
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA sequence variation identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA seq var ID
- Display Name
- DNA sequence variation identifier Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- DNA sequence variation identifier, 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
- 14222
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Identificador variante de secuencia de ADN: Synonyms: Cambio ADN |
| es-MX | Spanish (Mexico) | Identificador de variación de secuencia de ADN: |
| fr-FR | French (France) | ADN identifiant de la variation de séquence: |
| it-IT | Italian (Italy) | DNA, identificatore variazione sequenza: 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 & |
| nl-NL | Dutch (Netherlands) | DNA sequentievariatie identificator: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Identificador de variação da seqüência do DNA: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | ДНК последовательность вариация идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA sekans varyasyonu tanımalayıcı: |
| zh-CN | Chinese (China) | DNA 序列变异标识符: Synonyms: HL7 遗传学 全血或组织; |
48004-6 DNA change (c.HGVS)
Term Description
Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- DNA change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA change
- Display Name
- DNA change Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA change, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 8938
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cambio del ADN: |
| es-MX | Spanish (Mexico) | Cambio de ADN: |
| fr-FR | French (France) | ADN variation: |
| it-IT | Italian (Italy) | DNA, cambio: Synonyms: Cambio di DNA Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | Variação da sequência de DNA: Synonyms: ; |
| zh-CN | Chinese (China) | DNA 变化: Synonyms: DNA 改变 HL7 遗传学 全血或组织; |
48019-4 DNA change type
Term Description
Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA Change Type
- Display Name
- DNA change type Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA change type, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.64
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
- Order vs. Observation
- Observation
Preferred Answer List LL379-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Wild type | LA9658-1 | ||
| Deletion | LA6692-3 | ||
| Duplication | LA6686-5 | ||
| Insertion | LA6687-3 | ||
| Insertion/Deletion | LA6688-1 | ||
| Inversion | LA6689-9 | ||
| Substitution | LA6690-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tipo de cambio del ADN: |
| es-MX | Spanish (Mexico) | Tipo de cambio de ADN: |
| fr-CA | French (Canada) | Type de variation de l'ADN: |
| fr-FR | French (France) | ADN type de variation: |
| it-IT | Italian (Italy) | DNA, cambio tipo: Synonyms: Cambio di DNA Cambio tipo di DNA Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | Tipo de variação de sequência de DNA: Synonyms: ; |
| zh-CN | Chinese (China) | DNA 变化类型: Synonyms: DNA 改变 DNA 改变类型 HL7 遗传学 全血或组织; |
48005-3 Amino acid change (pHGVS)
Term Description
Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acid change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Amino acid change
- Display Name
- Amino acid change Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Amino acid change, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 4958
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | cambio aminoacídico: |
| es-MX | Spanish (Mexico) | Cambio de aminoácidos: |
| fr-FR | French (France) | Acides aminés substitués: |
| it-IT | Italian (Italy) | Aminoacido, cambio: Synonyms: Cambio di aminoacido Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | aminozuurwijziging: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Mudança de amino ácido: Synonyms: Finding; |
| ru-RU | Russian (Russian Federation) | Аминокислота изменение: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asit değişimi: |
| zh-CN | Chinese (China) | 氨基酸变化: Synonyms: HL7 遗传学 全血或组织; |
48006-1 Amino acid change [Type]
Term Description
Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Amino acid change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Amino acid change type
- Display Name
- Amino acid change type Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Amino acid change type, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Preferred Answer List LL380-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Wild type | LA9658-1 | ||
| Deletion | LA6692-3 | ||
| Duplication | LA6686-5 | ||
| Frameshift | LA6694-9 | ||
| Initiating Methionine | LA6695-6 | ||
| Insertion | LA6687-3 | ||
| Insertion and Deletion | LA9659-9 | ||
| Missense | LA6698-0 | ||
| Nonsense | LA6699-8 | ||
| Silent | LA6700-4 | ||
| Stop Codon Mutation | LA6701-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tipo de cambio aminoacídico: |
| es-MX | Spanish (Mexico) | Tipo de cambio de aminoácidos: |
| fr-FR | French (France) | Acides aminés type de substitution: |
| it-IT | Italian (Italy) | Aminoacido, cambio tipo: Synonyms: Cambio di aminoacido Cambio tipo di aminoacido Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | aminozuurwijzigingstype: Synonyms: molgen soort |
| pt-BR | Portuguese (Brazil) | Tipo de mudança de amino ácido: Synonyms: Typ; |
| ru-RU | Russian (Russian Federation) | Аминокислота изменение тип: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asit değişimi tipi: Synonyms: Tür |
| zh-CN | Chinese (China) | 氨基酸变化类型: Synonyms: HL7 遗传学 全血或组织; |
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.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA region name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA region name
- Display Name
- DNA region name Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- DNA region name, 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
- 16923
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre de la región de ADN: |
| es-MX | Spanish (Mexico) | Nombre de la región de ADN: |
| fr-FR | French (France) | ADN nom de la région: |
| it-IT | Italian (Italy) | DNA, nome regione: Synonyms: Genetica molecolare Identificatore Nome di regione del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | DNA regionaam: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nome da região do DNA: Synonyms: Gene region; |
| ru-RU | Russian (Russian Federation) | ДНК зона наименование: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA bölge adı: |
| zh-CN | Chinese (China) | DNA 区域名称: Synonyms: HL7 遗传学 全血或组织; |
53034-5 Allelic state
Term Description
The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic state
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Allelic state
- Display Name
- Allelic state Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Allelic state, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.68
- Order vs. Observation
- Observation
Preferred Answer List LL381-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Heteroplasmic | LA6703-8 | ||
| Homoplasmic | LA6704-6 | ||
| Homozygous | LA6705-3 | ||
| Heterozygous | LA6706-1 | ||
| Hemizygous | LA6707-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estado alélico: |
| es-MX | Spanish (Mexico) | Estado alélico: |
| fr-FR | French (France) | Statut allélique: |
| it-IT | Italian (Italy) | Stato allelico: Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | allelstatus: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Estado alélicas: Synonyms: Finding; |
| ru-RU | Russian (Russian Federation) | Аллельное состояние: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Allelik durum: |
| zh-CN | Chinese (China) | 等位状态: Synonyms: HL7 遗传学 全血或组织; |
48002-0 Genomic source class [Type]
Term Description
The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Genomic source class
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genomic source class
- Display Name
- Genomic source class Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genomic source class, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14631
Preferred Answer List LL378-1
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Germline | LA6683-2 | ||
| Somatic | LA6684-0 | ||
| Fetal | LA10429-1 | ||
| Likely germline | LA18194-3 | ||
| Likely somatic | LA18195-0 | ||
| Likely fetal | LA18196-8 | ||
| Unknown genomic origin | LA18197-6 | ||
| De novo | LA26807-0 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 62389-2 | Chromosome analysis master panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51966-0 | Genetic disease DNA analysis panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 51962-9 | Pharmacogenetic DNA analysis panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Origen de la clase genómica: |
| es-MX | Spanish (Mexico) | Clase de fuente genómica: |
| fr-FR | French (France) | Source génomique: |
| it-IT | Italian (Italy) | Classe fonte Genomica: Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genomische bronklasse: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Classe da fonte Genomic: Synonyms: Genetic variant source; |
| ru-RU | Russian (Russian Federation) | Геномный источник класс: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genomik kaynak sınıfı: Synonyms: Tür |
| zh-CN | Chinese (China) | 基因组来源类: Synonyms: HL7 遗传学 全血或组织; |
47998-0 DNA sequence variation display name [Text] Narrative
Term Description
Thumbnail "textual display" convention of a single DNA Marker and its interpretation.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA sequence variation display name
- Property
- Txt
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nar
- Method
- Molgen
Additional Names
- Short Name
- DNA seq var display name
- Display Name
- DNA sequence variation display name Molgen Nar (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA sequence variation display name, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre de la variante de secuencia de ADN: Synonyms: Cambio ADN |
| es-MX | Spanish (Mexico) | Nombre para mostrar de la variación de la secuencia de ADN: |
| fr-FR | French (France) | ADN nom de la variation de séquence: |
| it-IT | Italian (Italy) | DNA, display name variazione sequenza: 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 & |
| nl-NL | Dutch (Netherlands) | DNA weergave van de naam van de sequentievariatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nome da sequência de DNA a apresentar variação: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | ДНК последовательность вариация отображаемое наименование: Synonyms: Кровь Кровь или Ткань Описательный Текст Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | DNA sekans varyasyonu görünen adı: |
| zh-CN | Chinese (China) | DNA 序列变异显示名称: Synonyms: HL7 遗传学 全血或组织; |
53037-8 Genetic variation clinical significance [Imp]
Term Description
Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genetic disease sequence variation interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene dis seq var interp-Imp
- Display Name
- Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Genetic disease sequence variation interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11949
Preferred Answer List LL4034-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pathogenic | LA6668-3 | ||
| Likely pathogenic | LA26332-9 | ||
| Uncertain significance | LA26333-7 | ||
| Likely benign | LA26334-5 | ||
| Benign | LA6675-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Interpretación de la variante de secuencia de la enfermedad genética: |
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia de la enfermedad genética: |
| fr-FR | French (France) | Maladie génétique interprétation globale de la variation de séquence: |
| it-IT | Italian (Italy) | Malattia genetica, interpretazione variazione di sequenza: Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione della variazione di sequenza di ma Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genetische ziekte sequentievariatie interpretatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Doença genética interpretação variação da seqüência: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Генетическое заболевание последовательность вариация интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik hastalık sekans varyasyon yorumu: |
| zh-CN | Chinese (China) | 遗传性疾病序列变异解释: Synonyms: HL7 遗传学 全血或组织; |
53040-2 Genetic variation's effect on drug metabolism
Term Description
Predicted phenotype for drug efficacy. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the Clinical Pharmacogenetics Implementation Consortium (CPIC). The previous answer list number was LL609-9, and three of the answer strings and LA codes are the same in the new list (ultrarapid metabolizer, intermediate metabolizer, and poor metabolizer). In the new answer list, the extensive metabolizer answer (LA10316-0) from LL609-9 has been replaced with two new answers (rapid metabolizer, normal metabolizer). LA10316-0 is still a valid LA code for the "extensive metabolizer" answer string.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Drug metabolism sequence variation interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- Drug metab seq var interp-Imp
- Display Name
- Drug metabolism sequence variation interpretation Molgen Ql (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Drug metabolism sequence variation interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated Long Common Name based on the HL7 Clinical Genomics Implementation guide; Corrected Scale from "Nom" to "Ord" since results are ordinal.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11135
Preferred Answer List LL3856-3
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Ultrarapid metabolizer | LA10315-2 | ||
| Rapid metabolizer | LA25390-8 | ||
| Normal metabolizer | LA25391-6 | ||
| Intermediate metabolizer | LA10317-8 | ||
| Poor metabolizer | LA9657-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Interpretación de la variante de secuencia en el metabolismo de drogas: |
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia del metabolismo de los fármacos: |
| fr-FR | French (France) | Métabolisme du médicament interprétation globale de la variation de séquence: |
| it-IT | Italian (Italy) | Farmaci, interpretazione variazione sequenza metabolismo: Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione di variazione di sequenza del meta Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | geneesmiddelmetabolisme volgorde variatie interpretatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Metabolismo de droga interpretação variação da seqüência: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Лекарство метаболизм последовательность вариация интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | İlaç metabolizması dizisi değişkenliği yorumu: |
| zh-CN | Chinese (China) | 药物代谢 序列变异解释: Synonyms: HL7 遗传学 依次型; |
51961-1 Genetic variation's effect on drug efficacy
Term Description
Predicted phenotype for ability of drug to bind to intended site in order to deliver intended affect. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Drug efficacy sequence variation interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- Drug eff seq var interp-Imp
- Display Name
- Drug efficacy sequence variation interpretation Molgen Ql (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Drug efficacy sequence variation interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 9472
Preferred Answer List LL539-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Resistant | LA6676-6 | ||
| Responsive | LA6677-4 | ||
| Presumed resistant | LA9660-7 | ||
| Presumed responsive | LA9661-5 | ||
| Unknown Significance | LA6682-4 | ||
| Benign | LA6675-8 | ||
| Presumed Benign | LA6674-1 | ||
| Presumed non-responsive | LA9662-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Interpretación de la variación de la secuencia de la eficacia del fármaco: |
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia de la eficacia del fármaco: |
| fr-FR | French (France) | Efficacité du médicament interprétation globale de la variation de séquence: |
| it-IT | Italian (Italy) | Farmaci, interpretazione variazione sequenza efficacia: Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione di variazione di sequenza di effic Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | geneesmiddelwerkzaamheid volgorde variatie interpretatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Interpretação variação da seqüência de eficácia da droga: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Лекарство эффективность последовательность вариация интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | İlaç etkilik dizi değişkenlik yorumu: |
| zh-CN | Chinese (China) | 药物疗效 序列变异解释: Synonyms: HL7 遗传学 依次型; |
69548-6 Genetic variant assessment
Term Description
Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Genetic variant assessment
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genetic var assess
- Display Name
- Genetic variant assessment Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genetic variant assessment, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13238
Preferred Answer List LL1971-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Present Copyright http://snomed.info/sct ID:52101004 Present (qualifier value) | LA9633-4 | ||
| Absent Copyright http://snomed.info/sct ID:2667000 Absent (qualifier value) | LA9634-2 | ||
| No call | LA18198-4 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Valoración de la variabilidad genética: |
| es-MX | Spanish (Mexico) | Evaluación de variantes genéticas: |
| fr-FR | French (France) | Variant génétique étudié: |
| it-IT | Italian (Italy) | Variante genetica, valutazione: Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genetische variant evaluatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Variante genética avaliação: |
| ru-RU | Russian (Russian Federation) | Генетического варианта исследование: Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik varyant değerlendirme: |
| zh-CN | Chinese (China) | 遗传变异评估: Synonyms: HL7 遗传学 全血或组织; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.