| Package | hl7.fhir.uv.molecular-definition-data-types |
| Type | ImplementationGuide |
| Id | Id |
| FHIR Version | R6 |
| Source | http://hl7.org/fhir/uv/molecular-definition-data-types/https://build.fhir.org/ig/HL7/molecular-definition-data-types/index.html |
| Url | http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types |
| Version | 1.0.0-ballot1 |
| Status | draft |
| Date | 2025-06-27T23:53:29+00:00 |
| Name | MolecularDefinitionDataTypes |
| Title | Molecular Definition Implementation Guide for Molecular Data Types |
| Experimental | False |
| Realm | uv |
| Authority | hl7 |
| Description | The Molecular Definition Implementation Guide for Molecular Data Types defines the use of the MolecularDefinition resource to represent genomic data types. |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: ImplementationGuide hl7.fhir.uv.molecular-definition-data-types
The official URL for this implementation guide is:
http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types
The Molecular Definition Implementation Guide for Molecular Data Types defines the use of the MolecularDefinition resource to represent genomic data types.
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ImplementationGuide hl7.fhir.uv.molecular-definition-data-types</b></p><a name=\"hl7.fhir.uv.molecular-definition-data-types\"> </a><a name=\"hchl7.fhir.uv.molecular-definition-data-types\"> </a><h2>MolecularDefinitionDataTypes</h2><p>The official URL for this implementation guide is: </p><pre>http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types</pre><div><p>The Molecular Definition Implementation Guide for Molecular Data Types defines the use of the MolecularDefinition resource to represent genomic data types.</p>\n</div></div>"
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"name" : "MolecularDefinitionDataTypes",
"title" : "Molecular Definition Implementation Guide for Molecular Data Types",
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"date" : "2025-06-27T23:53:29+00:00",
"publisher" : "HL7 International / Clinical Genomics",
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"name" : "Allele",
"description" : "Allele profile of the MolecularDefinition resource.",
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"name" : "Amino Acid 1-letter Ambiguous Symbols",
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"name" : "Coordinate Origin",
"description" : "Reference points for coordinate counting in molecular sequences",
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"reference" : "MolecularDefinition/example-allelesliced-cyp2c19-1016g"
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"name" : "example-allelesliced-cyp2c19-1016g",
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"reference" : "MolecularDefinition/example-allelesliced-cyp2c19-661a"
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"name" : "example-allelesliced-cyp2c19-661a",
"description" : "A simple Allele example showing CYP2C19*3.002:c.661A",
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"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-cyp2c19-661g"
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"name" : "example-allelesliced-cyp2c19-661g",
"description" : "A simple Allele example showing CYP2C19*1.002:c.661G",
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"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-121-a"
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"name" : "example-allelesliced-hla-121-a",
"description" : "An Allele example representing a part of HLA00001.1:c.[121A])",
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"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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},
{
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-121-c"
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"name" : "example-allelesliced-hla-121-c",
"description" : "An Allele example representing a part of HLA00001.1:c.[121C])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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},
{
"extension" : [
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"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-123-c"
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"name" : "example-allelesliced-hla-123-c",
"description" : "An Allele example representing a part of HLA00001.1:c.[123C])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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},
{
"extension" : [
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-123-t"
},
"name" : "example-allelesliced-hla-123-t",
"description" : "An Allele example representing a part of HLA00001.1:c.[123T])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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},
{
"extension" : [
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-126-a"
},
"name" : "example-allelesliced-hla-126-a",
"description" : "An Allele example representing a part of HLA00001.1:c.[126A])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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},
{
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-126-g"
},
"name" : "example-allelesliced-hla-126-g",
"description" : "An Allele example representing a part of HLA00001.1:c.[126G])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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},
{
"extension" : [
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-144-a"
},
"name" : "example-allelesliced-hla-144-a",
"description" : "An Allele example representing a part of HLA00001.1:c.[144A])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-144-c"
},
"name" : "example-allelesliced-hla-144-c",
"description" : "An Allele example representing a part of HLA00001.1:c.[144C])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-98-c"
},
"name" : "example-allelesliced-hla-98-c",
"description" : "An Allele example representing a part of HLA00001.1:c.[98C])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
]
},
{
"extension" : [
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"valueString" : "MolecularDefinition"
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],
"reference" : {
"reference" : "MolecularDefinition/example-allelesliced-hla-98-t"
},
"name" : "example-allelesliced-hla-98-t",
"description" : "An Allele example representing a part of HLA00001.1:c.[98T])",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
]
},
{
"extension" : [
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"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
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],
"reference" : {
"reference" : "MolecularDefinition/example-genomic-cyp2c19-accession"
},
"name" : "example-genomic-cyp2c19-accession",
"description" : "A sequence represented as a code using an accession number",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
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"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "DocumentReference"
}
],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-af1961831-url"
},
"name" : "example-genomicfile-af1961831-url",
"description" : "Homo sapiens MHC class I antigen (HLA-B) gene",
"isExample" : true
},
{
"extension" : [
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"reference" : {
"reference" : "DocumentReference/example-genomicfile-cyp2c19-accession"
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"name" : "example-genomicfile-cyp2c19-accession",
"description" : "CYP2C19 gene sequence",
"isExample" : true
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{
"extension" : [
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"reference" : {
"reference" : "DocumentReference/example-genomicfile-cyp2c19-attached"
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"name" : "example-genomicfile-cyp2c19-attached",
"description" : "CYP2C19 gene sequence",
"isExample" : true
},
{
"extension" : [
{
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-cyp2c19-url"
},
"name" : "example-genomicfile-cyp2c19-url",
"description" : "CYP2C19 gene sequence",
"isExample" : true
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-hla00001"
},
"name" : "example-genomicfile-hla00001",
"description" : "A sample Document Reference instance representing HLA00001.",
"isExample" : true
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "DocumentReference"
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-mw7162561"
},
"name" : "example-genomicfile-mw7162561",
"description" : "A sample Document Reference instance representing Homo sapiens isolate 7 BRCA1 (BRCA1) gene, exon 10 and partial cds.",
"isExample" : true
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "DocumentReference"
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-nc00000714-url"
},
"name" : "example-genomicfile-nc00000714-url",
"description" : "Chr7, GRCh38.p14 sequence",
"isExample" : true
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "DocumentReference"
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-nc00001010-url"
},
"name" : "example-genomicfile-nc00001010-url",
"description" : "Chr10, GRCh37.p13 sequence",
"isExample" : true
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "DocumentReference"
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-ng0083843"
},
"name" : "example-genomicfile-ng0083843",
"description" : "A sample Document Reference instance representing Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), RefSeqGene (LRG_584) on chromosome 10.",
"isExample" : true
},
{
"extension" : [
{
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"valueString" : "DocumentReference"
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-nm0002513"
},
"name" : "example-genomicfile-nm0002513",
"description" : "A sample Document Reference instance representing Homo sapiens mutS homolog 2 (MSH2), transcript variant 1, mRNA.",
"isExample" : true
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "DocumentReference"
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-nm0007694"
},
"name" : "example-genomicfile-nm0007694",
"description" : "(CYP2C19), mRNA",
"isExample" : true
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "DocumentReference"
}
],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-nm0020245"
},
"name" : "example-genomicfile-nm0020245",
"description" : "A sample Document Reference instance representing Homo sapiens FMRP translational regulator 1 (FMR1), transcript variant ISO1, mRNA.",
"isExample" : true
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-genotype-cyp2c19-1002-and-3"
},
"name" : "example-genotype-cyp2c19-1002-and-3",
"description" : "Example of Genotype profile representing CYP2C19*1.002 and CYP2C19*3.00 haplotypes",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/genotype"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-genotype-hla-00001-and-2"
},
"name" : "example-genotype-hla-00001-and-2",
"description" : "Example of Genotype profile representing HLA-A*01:01:01:01 and HLA-A*01:02:01:01 haplotypes",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/genotype"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-haplotype-cyp2c19-1002"
},
"name" : "example-haplotype-cyp2c19-1002",
"description" : "Example of Haplotype profile representing CYP2C19*1.002 as CYP2C19*1.002:c.[661G; 1016G]",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/haplotype"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-haplotype-cyp2c19-3002"
},
"name" : "example-haplotype-cyp2c19-3002",
"description" : "Example of Haplotype profile representing CYP2C19*3.002 as CYP2C19*3.002:c.[661A; 1016G]",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/haplotype"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-haplotype-hla-00001"
},
"name" : "example-haplotype-hla-00001",
"description" : "Example of Haplotype profile representing HLA-A*01:01:01:01 HLA00001.1:c.[98T; 121C; 123C; 126G; 144C]",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/haplotype"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-haplotype-hla-00002"
},
"name" : "example-haplotype-hla-00002",
"description" : "Example of Haplotype profile representing HLA-A*01:02:01:01 as HLA00001.1:c.[98C; 121A; 123T; 126A; 144A]",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/haplotype"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-a-aa-iupac"
},
"name" : "example-sequence-a-aa-iupac",
"description" : "Simple Sequence example with IUPAC encoding",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-a-dna-iupac"
},
"name" : "example-sequence-a-dna-iupac",
"description" : "Simple Sequence example with IUPAC encoding, A",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
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"reference" : "MolecularDefinition/example-sequence-c-dna-iupac"
},
"name" : "example-sequence-c-dna-iupac",
"description" : "Simple Sequence example with IUPAC encoding, C",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cgg"
},
"name" : "example-sequence-cgg",
"description" : "Simple Sequence example of GGC sequence",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-accession"
},
"name" : "example-sequence-cyp2c19-accession",
"description" : "A sequence represented as an attachement",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-attached"
},
"name" : "example-sequence-cyp2c19-attached",
"description" : "A sequence represented as an attachement",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-concatenated-regions"
},
"name" : "example-sequence-cyp2c19-concatenated-regions",
"description" : "A sequence represented as a concatenation of sequence instances",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-downstream-region"
},
"name" : "example-sequence-cyp2c19-downstream-region",
"description" : "A downstream region extracted from a sequence",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-gene-region"
},
"name" : "example-sequence-cyp2c19-gene-region",
"description" : "A gene region extracted from a sequence",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-upstream-region"
},
"name" : "example-sequence-cyp2c19-upstream-region",
"description" : "An upstream region extracted from a sequence",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-url"
},
"name" : "example-sequence-cyp2c19-url",
"description" : "Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-contained"
},
"name" : "example-sequence-fmr1-cgg-20x-edited-contained",
"description" : "A sequence example composed of 20x repeats of CGG sequence edited using contained resources",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-referenced"
},
"name" : "example-sequence-fmr1-cgg-20x-edited-referenced",
"description" : "A sequence example composed of 20x repeats of CGG sequence edited using referenced resources",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat"
},
"name" : "example-sequence-fmr1-cgg-20x-repeat",
"description" : "A sequence example composed of 20x repeats of CGG sequence",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-hla000011"
},
"name" : "example-sequence-hla000011",
"description" : "A sequence represented as a resolvable URL of HLA00001",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-nc00000714-url"
},
"name" : "example-sequence-nc00000714-url",
"description" : "A sequence represented as a resolvable URL, NC_000007.14 Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-nm0007694-url"
},
"name" : "example-sequence-nm0007694-url",
"description" : "A sequence represented as a resolvable URL",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-variation-cyp2c19-1015-spdi"
},
"name" : "example-variation-cyp2c19-1015-spdi",
"description" : "Example of Variation profile of CYP2C19 at Position 1015 as SPDI",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/variation"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "MolecularDefinition"
}
],
"reference" : {
"reference" : "MolecularDefinition/example-variation-tri-allelic-ABCB1"
},
"name" : "example-variation-tri-allelic-ABCB1",
"description" : "Example of Variation profile of tri-allelic variant in ABCB1",
"isExample" : true,
"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/variation"
]
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
"reference" : "StructureDefinition/genotype"
},
"name" : "Genotype",
"description" : "Genotype profile of Molecular Definition",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
"reference" : "StructureDefinition/haplotype"
},
"name" : "Haplotype",
"description" : "Haplotype profile of Molecular Definition Resource",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/molecular-definition-focus-cs"
},
"name" : "Molecular Definition focus code system",
"description" : "Molecular Definition Focus terms that describe various representation elements.",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
"reference" : "ValueSet/molecular-definition-focus-vs"
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"name" : "Molecular Definition Focus Value Set",
"description" : "Molecular Definition Focus terms that describe various representation elements.",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/molecule-type"
},
"name" : "Molecule Type",
"description" : "Types of molecular sequences including DNA, RNA, and amino acids",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/normalization-method"
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"name" : "Normalization Method",
"description" : "Methods for normalizing sequence variants",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/nucleotide-dna-1letter-ambiguous"
},
"name" : "Nucleotide DNA 1-letter Ambiguous Symbols",
"description" : "Single-letter ambiguous symbols for DNA residues.",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/nucleotide-dna-1letter-with-n"
},
"name" : "Nucleotide DNA 1-letter Symbols Including N",
"description" : "Single-letter symbols for DNA residues, including N for any nucleotide.",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/nucleotide-dna-1letter-unambiguous"
},
"name" : "Nucleotide DNA 1-letter Unambiguous Symbols",
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"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/nucleotide-rna-1letter-unambiguous"
},
"name" : "Nucleotide RNA 1-letter Unambiguous Symbols",
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"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
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"description" : "Sequence profile of Molecular Definition",
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},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
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],
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},
{
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"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
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],
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},
{
"extension" : [
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"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
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],
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"description" : "Variation profile of the MolecularDefinition resource.",
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}
],
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"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
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],
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"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
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],
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},
{
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],
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},
{
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}
],
"sourceUrl" : "use-cases.html",
"name" : "use-cases.html",
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}
]
},
"parameter" : [
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"value" : "2025+"
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{
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{
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{
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{
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{
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{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "excludelogbinaryformat"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "tabbed-snapshots"
},
"value" : "true"
}
]
}
}
XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.