This page is part of the FHIR Specification (v5.0.0: R5 - STU). This is the current published version in it's permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
Clinical Genomics Work Group | Maturity Level: 1 | Trial Use | Use Context: Country: World, Not yet ready for Production use |
Official URL: http://hl7.org/fhir/ValueSet/genomicstudy-type
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Version: 5.0.0 | |||
draft as of 2022-08-18 | Computable Name: GenomicStudyType | |||
Flags: Experimental | OID: 2.16.840.1.113883.4.642.3.3082 |
This value set is used in the following places:
The type of the GenomicStudy.
http://hl7.org/fhir/genomicstudy-type
This expansion generated 26 Mar 2023
This value set contains 12 concepts
Expansion based on Genomic Study Type v5.0.0 (CodeSystem)
Code | System | Display | Definition |
alt-splc | http://hl7.org/fhir/genomicstudy-type | Alternative splicing detection | Identification of multiple different processed mRNA transcripts from the same DNA template |
chromatin | http://hl7.org/fhir/genomicstudy-type | Chromatin conformation | Analysis of the spacial organization of chromatin within a cell |
cnv | http://hl7.org/fhir/genomicstudy-type | CNV detection | Detection of a change in the number of copies of a defined region of genomic DNA sequence resulting in structural variation when compared to the reference sequence |
epi-alt-hist | http://hl7.org/fhir/genomicstudy-type | Epigenetic Alterations - histone modifications | Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression |
epi-alt-dna | http://hl7.org/fhir/genomicstudy-type | Epigenetic Alterations -DNA methylation | Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription |
fam-var-segr | http://hl7.org/fhir/genomicstudy-type | Familial variant segregation | Determining if a variant identified in an individual is present in other family members |
func-var | http://hl7.org/fhir/genomicstudy-type | Functional variation detection | Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence |
gene-expression | http://hl7.org/fhir/genomicstudy-type | Gene expression profiling | Measurement and characterization of activity from all gene products |
post-trans-mod | http://hl7.org/fhir/genomicstudy-type | Post-translational Modification Identification | Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein |
snp | http://hl7.org/fhir/genomicstudy-type | SNP Detection | Determination of which nucleotide is base present at a known variable location of the genomic sequence |
str | http://hl7.org/fhir/genomicstudy-type | STR count | Quantification of the number of sequential microsatellite units in a repetitive sequence region |
struc-var | http://hl7.org/fhir/genomicstudy-type | Structural variation detection | Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence |
See the full registry of value sets defined as part of FHIR.
Explanation of the columns that may appear on this page:
Lvl | A few code lists that FHIR defines are hierarchical - each code is assigned a level. For value sets, levels are mostly used to organize codes for user convenience, but may follow code system hierarchy - see Code System for further information |
Source | 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). If the code is in italics, this indicates that the code is not selectable ('Abstract') |
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 |