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/0.1.0/ValueSet-R5-genomicstudy-type-for-R4B.html |
| URL | http://hl7.org/fhir/uv/xver/ValueSet/R5-genomicstudy-type-for-R4B |
| Version | 0.1.0 |
| Status | active |
| Date | 2026-03-17T21:02:03.8104715+00:00 |
| Name | R5GenomicstudyTypeForR4B |
| Title | Cross-version ValueSet R5.GenomicStudyType for use in FHIR R4B |
| Realm | uv |
| Authority | hl7 |
| Description | This cross-version ValueSet represents content from `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0` for use in FHIR R4B. |
| Purpose | This value set is part of the cross-version definitions generated to enable use of the value set `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0` as defined in FHIR R5 in FHIR R4B. The source value set is bound to the following FHIR R5 elements: * `GenomicStudy.type` Note that all concepts are included in this cross-version definition because no concepts have compatible representations Following are the generation technical comments: FHIR ValueSet `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0`, defined in FHIR R5 does not have any mapping to FHIR R4B |
No resources found
| CodeSystem | ||
| hl7.fhir.uv.xver-r5.r4.r4#0.0.1-snapshot-2 | genomicstudy-type | Genomic Study Type |
Note: links and images are rebased to the (stated) source
Generated Narrative: ValueSet R5-genomicstudy-type-for-R4B
This value set expansion contains 12 concepts.
| System | Version | Code | Display | Definition |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | alt-splc | Alternative splicing detection | Identification of multiple different processed mRNA transcripts from the same DNA template |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | chromatin | Chromatin conformation | Analysis of the spacial organization of chromatin within a cell |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | cnv | 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 |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | epi-alt-dna | Epigenetic Alterations -DNA methylation | Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | epi-alt-hist | 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 |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | fam-var-segr | Familial variant segregation | Determining if a variant identified in an individual is present in other family members |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | func-var | Functional variation detection | Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | gene-expression | Gene expression profiling | Measurement and characterization of activity from all gene products |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | post-trans-mod | Post-translational Modification Identification | Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | snp | SNP Detection | Determination of which nucleotide is base present at a known variable location of the genomic sequence |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | str | STR count | Quantification of the number of sequential microsatellite units in a repetitive sequence region |
http://hl7.org/fhir/genomicstudy-type | 5.0.0 | struc-var | Structural variation detection | Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence |
FHIR
FHIRsmith{
"resourceType": "ValueSet",
"id": "R5-genomicstudy-type-for-R4B",
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
"valueInteger": 1
},
{
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"valueCode": "cg"
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{
"extension": [
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"valueId": "hl7.fhir.uv.xver-r5.r4b"
},
{
"url": "version",
"valueString": "0.1.0"
},
{
"url": "uri",
"valueUri": "http://hl7.org/fhir/uv/xver/ImplementationGuide/hl7.fhir.uv.xver-r5.r4b"
}
],
"url": "http://hl7.org/fhir/StructureDefinition/package-source"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode": "trial-use",
"_valueCode": {
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"valueCanonical": "http://hl7.org/fhir/uv/xver/ImplementationGuide/hl7.fhir.uv.xver-r5.r4b"
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],
"url": "http://hl7.org/fhir/uv/xver/ValueSet/R5-genomicstudy-type-for-R4B",
"version": "0.1.0",
"name": "R5GenomicstudyTypeForR4B",
"title": "Cross-version ValueSet R5.GenomicStudyType for use in FHIR R4B",
"status": "active",
"experimental": false,
"date": "2026-03-17T21:02:03.8104715+00:00",
"publisher": "Clinical Genomics",
"contact": [
{
"name": "Clinical Genomics",
"telecom": [
{
"system": "url",
"value": "http://www.hl7.org/Special/committees/clingenomics"
}
]
}
],
"description": "This cross-version ValueSet represents content from `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0` for use in FHIR R4B.",
"jurisdiction": [
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
"display": "World"
}
]
}
],
"purpose": "This value set is part of the cross-version definitions generated to enable use of the\r\nvalue set `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0` as defined in FHIR R5\r\nin FHIR R4B.\r\n\r\nThe source value set is bound to the following FHIR R5 elements:\r\n* `GenomicStudy.type`\r\n\r\nNote that all concepts are included in this cross-version definition because no concepts have compatible representations\r\n\r\nFollowing are the generation technical comments:\r\n\nFHIR ValueSet `http://hl7.org/fhir/ValueSet/genomicstudy-type|5.0.0`, defined in FHIR R5 does not have any mapping to FHIR R4B",
"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-dna",
"display": "Epigenetic Alterations -DNA methylation"
},
{
"code": "epi-alt-hist",
"display": "Epigenetic Alterations - histone modifications"
},
{
"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": "2026-03-17T21:02:03.8104715+00:00",
"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-dna",
"display": "Epigenetic Alterations -DNA methylation"
},
{
"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": "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"
}
]
}
}