FHIR IG analytics
| Package | hl7.fhir.uv.xver-r5.r4b |
| Resource Type | ValueSet |
| Id | ValueSet-R5-genomicstudy-type-for-R4B.json |
| FHIR Version | R4B |
| Source | http://hl7.org/fhir/uv/xver-r5.r4b/0.0.1-snapshot-2/ValueSet-R5-genomicstudy-type-for-R4B.html |
| URL | http://hl7.org/fhir/5.0/ValueSet/R5-genomicstudy-type-for-R4B |
| Version | 0.0.1-snapshot-2 |
| Status | active |
| Date | 2025-09-01T22:37:02.541333+10:00 |
| Name | R5_genomicstudy_type_for_R4B |
| Title | Cross-version VS for R5.GenomicStudyType for use in FHIR R4B |
| Realm | uv |
| Authority | hl7 |
| Description | This cross-version ValueSet represents concepts from http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0 for use in FHIR R4B. Concepts not present here have direct `equivalent` mappings crossing all versions from R5 to R4B. |
Resources that use this resource
Resources that this resource uses
Narrative
Note: links and images are rebased to the (stated) source
This value set expansion contains 12 concepts.
| 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 |
Source1
{
"resourceType": "ValueSet",
"id": "R5-genomicstudy-type-for-R4B",
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"extension": [
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"valueCode": "trial-use",
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"url": "http://hl7.org/fhir/5.0/ValueSet/R5-genomicstudy-type-for-R4B",
"version": "0.0.1-snapshot-2",
"name": "R5_genomicstudy_type_for_R4B",
"title": "Cross-version VS for R5.GenomicStudyType for use in FHIR R4B",
"status": "active",
"experimental": false,
"date": "2025-09-01T22:37:02.541333+10:00",
"publisher": "Clinical Genomics",
"contact": [
{
"name": "Clinical Genomics",
"telecom": [
{
"system": "url",
"value": "http://www.hl7.org/Special/committees/clingenomics"
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],
"description": "This cross-version ValueSet represents concepts from http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0 for use in FHIR R4B. Concepts not present here have direct `equivalent` mappings crossing all versions from R5 to R4B.",
"jurisdiction": [
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
"display": "World"
}
]
}
],
"compose": {
"include": [
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"concept": [
{
"code": "alt-splc",
"display": "Alternative splicing detection"
},
{
"code": "chromatin",
"display": "Chromatin conformation"
},
{
"code": "cnv",
"display": "CNV detection"
},
{
"code": "epi-alt-hist",
"display": "Epigenetic Alterations - histone modifications"
},
{
"code": "epi-alt-dna",
"display": "Epigenetic Alterations -DNA methylation"
},
{
"code": "fam-var-segr",
"display": "Familial variant segregation"
},
{
"code": "func-var",
"display": "Functional variation detection"
},
{
"code": "gene-expression",
"display": "Gene expression profiling"
},
{
"code": "post-trans-mod",
"display": "Post-translational Modification Identification"
},
{
"code": "snp",
"display": "SNP Detection"
},
{
"code": "str",
"display": "STR count"
},
{
"code": "struc-var",
"display": "Structural variation detection"
}
]
}
]
},
"expansion": {
"timestamp": "2025-09-01T22:37:02.541333+10:00",
"contains": [
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "alt-splc",
"display": "Alternative splicing detection"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "chromatin",
"display": "Chromatin conformation"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "cnv",
"display": "CNV detection"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "epi-alt-hist",
"display": "Epigenetic Alterations - histone modifications"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "epi-alt-dna",
"display": "Epigenetic Alterations -DNA methylation"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "fam-var-segr",
"display": "Familial variant segregation"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "func-var",
"display": "Functional variation detection"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "gene-expression",
"display": "Gene expression profiling"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "post-trans-mod",
"display": "Post-translational Modification Identification"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "snp",
"display": "SNP Detection"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "str",
"display": "STR count"
},
{
"system": "http://hl7.org/fhir/genomicstudy-type",
"version": "5.0.0",
"code": "struc-var",
"display": "Structural variation detection"
}
]
}
}
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