81251-1
Complex genetic variant panel
Trial
Status Information
- Status
- TRIAL
Term Description
This panel is used to report information related to a complex genetic variant and includes a repeating subpanel for reporting specific information for each simple variation that the complex variant includes.
Source: Regenstrief LOINC
Panel Hierarchy
Details for each LOINC in Panel LHC-Forms
LOINC | Name | R/O/C | Cardinality | Example UCUM Units |
---|---|---|---|---|
81251-1 | Complex genetic variant panel | 0..n | ||
Indent81260-2 | Complex genetic variant [ID] | C | 0..1 | |
Indent81262-8 | Complex variant HGVS name | C | 0..1 | |
Indent81263-6 | Complex variant type | C | 0..1 | |
Indent81259-4 | Associated phenotype | O | 0..1 | |
Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
Indent53034-5 | Allelic state | O | 0..1 | |
Indent82309-6 | Basis for allelic phase [Type] | O | ||
Indent81250-3 | Discrete genetic variant panel | 0..n | ||
Indent Indent83005-9 | Variant category | |||
Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
Indent Indent48019-4 | DNA change type | O | 0..1 | |
Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
Indent Indent84414-2 | Haplotype name | O | ||
Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
Indent Indent81304-8 | Variant analysis method [Type] | O | ||
Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
Indent Indent69548-6 | Genetic variant assessment | O | ||
Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
Indent Indent53034-5 | Allelic state | C | 0..1 | |
Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
Indent Indent82120-7 | Allelic phase | O | 0..1 | |
Indent Indent82309-6 | Basis for allelic phase [Type] | O |
Question Cardinality
0..n
Fully-Specified Name
- Component
- Complex variant panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Comp var pnl
- Display Name
- Complex variant panel
- Consumer Name Alpha Get Info
- Complex variant panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
LOINC | Long Common Name |
---|---|
81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Panel de variante compleja: |
es-MX | Spanish (Mexico) | Panel de variantes complejas: |
fr-FR | French (France) | Variant complexe panel: |
it-IT | Italian (Italy) | Variante complessa panel: Synonyms: Panel variante complessa Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
zh-CN | Chinese (China) | 复杂变异组套: Synonyms: 分子病理学; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=81251-1 - Questionnaire definition
- https:
//fhir.loinc.org/Questionnaire/?url=http: //loinc.org/q/81251-1
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright