Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
| Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-type-vs | Version: 4.0.0-ballot | |||
| Standards status: Informative | Computable Name: GenomicStudyTypeVS | |||
Backport of http://hl7.org/fhir/ValueSet/genomicstudy-type
References
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs version 📦4.0.0-ballot
Expansion performed internally based on codesystem Genomic Study Type CodeSystem v4.0.0-ballot (CodeSystem)
This value set contains 12 concepts
| System | Code | Display (en) | JSON | XML |
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | alt-splc | Alternative splicing detection | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | chromatin | Chromatin conformation | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | cnv | CNV detection | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | epi-alt-hist | Epigenetic Alterations - histone modifications | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | epi-alt-dna | Epigenetic Alterations -DNA methylation | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | fam-var-segr | Familial variant segregation | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | func-var | Functional variation detection | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | gene-expression | Gene expression profiling | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | post-trans-mod | Post-translational Modification Identification | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | snp | SNP Detection | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | str | STR count | ||
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | struc-var | Structural variation detection |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |