FHIR IG analytics| Package | hl7.fhir.uv.molecular-definition-data-types |
| Resource Type | ImplementationGuide |
| Id | ImplementationGuide-hl7.fhir.uv.molecular-definition-data-types.json |
| FHIR Version | R6 |
| Source | 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 | 2026-02-10T18:46:11+00:00 |
| Name | MolecularDefinitionDataTypes |
| Title | Molecular Definition Implementation Guide for Molecular Data Types |
| 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. |
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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.
FHIR
FHIRsmith{
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"version": "1.0.0-ballot1",
"name": "MolecularDefinitionDataTypes",
"title": "Molecular Definition Implementation Guide for Molecular Data Types",
"status": "draft",
"date": "2026-02-10T18:46:11+00:00",
"publisher": "HL7 International / Clinical Genomics",
"contact": [
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"description": "The Molecular Definition Implementation Guide for Molecular Data Types defines the use of the MolecularDefinition resource to represent genomic data types.",
"jurisdiction": [
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"coding": [
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"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
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"packageId": "hl7.fhir.uv.molecular-definition-data-types",
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"reference": "StructureDefinition/allele"
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"name": "Allele",
"description": "Allele profile of the MolecularDefinition resource.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
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],
"reference": {
"reference": "ValueSet/amino-acid-1letter-ambiguous"
},
"name": "Amino Acid 1-letter Ambiguous Symbols ValueSet",
"description": "Single-letter symbols for amino acids, including ambiguous symbols.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
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],
"reference": {
"reference": "ValueSet/amino-acid-1letter-unambiguous"
},
"name": "Amino Acid 1-letter Unambiguous Symbols ValueSet",
"description": "Single-letter unambiguous symbols for the 20 common amino acids.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
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],
"reference": {
"reference": "ValueSet/amino-acid-3letter-ambiguous"
},
"name": "Amino Acid 3-letter Ambiguous Symbols ValueSet",
"description": "Three-letter symbols for amino acids, including ambiguous symbols.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
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"reference": {
"reference": "ValueSet/amino-acid-3letter-unambiguous"
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"name": "Amino Acid 3-letter Unambiguous Symbols ValueSet",
"description": "Three-letter unambiguous symbols for the 20 common amino acids.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/amino-acid"
},
"name": "Amino Acid Symbols",
"description": "Single-letter and three-letter symbols for amino acids, including unambiguous and ambiguous symbols.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/coordinate-origin"
},
"name": "Coordinate Origin",
"description": "Reference points for coordinate counting in molecular sequences",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/coordinate-origin"
},
"name": "Coordinate Origin ValueSet",
"description": "Coordinate origin of how the start of the sequence is denoted.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/encodings"
},
"name": "Encodings",
"description": "CodeSystem listing the different encodings for nucleotides and amino acids.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-1016-cont"
},
"name": "example-allelesliced-cyp2c19-1016-cont",
"description": "Example of Allele profile including slices for CYP2C19 position 1016 while leveraging contained resources",
"isExample": true,
"profile": [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/allele"
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},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
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],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-1016g"
},
"name": "example-allelesliced-cyp2c19-1016g",
"description": "A simple Allele example showing a G at position 1016 on NM_000769.4, applicable to both CYP2C19*1.002 and CYP2C19*3.002",
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-1b-1016g"
},
"name": "example-allelesliced-cyp2c19-1b-1016g",
"description": "A simple Allele example showing CYP2C19*1.002*1B 1016 G",
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-1b-124t"
},
"name": "example-allelesliced-cyp2c19-1b-124t",
"description": "A simple Allele example showing CYP2C19*1.002*1B 124 T",
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-661a"
},
"name": "example-allelesliced-cyp2c19-661a",
"description": "A simple Allele example showing CYP2C19*3.002:c.661A",
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-661g"
},
"name": "example-allelesliced-cyp2c19-661g",
"description": "A simple Allele example showing CYP2C19*1.002:c.661G",
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-661g-coded"
},
"name": "example-allelesliced-cyp2c19-661g-coded",
"description": "A simple Allele example showing CYP2C19*1.002:c.661G",
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-hla-121-a"
},
"name": "example-allelesliced-hla-121-a",
"description": "An Allele example representing a part of HLA00001.1:c.[121A])",
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-hla-121-c"
},
"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"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-hla-123-c"
},
"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"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"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"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"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"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"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"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-hla-144-a-coded"
},
"name": "example-allelesliced-hla-144-a-coded",
"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"
}
],
"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",
"valueString": "MolecularDefinition"
}
],
"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": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"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": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-vkorc1-31096368c"
},
"name": "example-allelesliced-vkorc1-31096368c",
"description": "A simple Allele example showing VKORC1 rs9923231 reference (C)",
"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"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-vkorc1-31096368t"
},
"name": "example-allelesliced-vkorc1-31096368t",
"description": "A simple Allele example showing VKORC1 rs9923231 variant (T)",
"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"
}
],
"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": [
{
"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": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicfile-cyp2c19-accession"
},
"name": "example-genomicfile-cyp2c19-accession",
"description": "CYP2C19 gene sequence",
"isExample": true
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicfile-cyp2c19-attached"
},
"name": "example-genomicfile-cyp2c19-attached",
"description": "CYP2C19 gene sequence",
"isExample": true
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"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",
"valueString": "DocumentReference"
}
],
"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"
}
],
"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"
}
],
"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"
}
],
"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"
}
],
"reference": {
"reference": "DocumentReference/example-genomicfile-nc00001610-url"
},
"name": "example-genomicfile-nc00001610-url",
"description": "VKORC1 gene sequence",
"isExample": true
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"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": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"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"
}
],
"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-cyp2c19-1b-and-1c"
},
"name": "example-genotype-cyp2c19-1b-and-1c",
"description": "Example of Genotype profile representing CYP2C19*1.002 (CYP2C19*1B) and CYP2C19*1.003 (CYP2C19*1C) 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-genotype-vkorc1-31096368c-and-31096368c"
},
"name": "example-genotype-vkorc1-31096368c-and-31096368c",
"description": "Example of Genotype profile representing VKORC1 C and C 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-vkorc1-31096368c-and-31096368t"
},
"name": "example-genotype-vkorc1-31096368c-and-31096368t",
"description": "Example of Genotype profile representing VKORC1 C and T 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-vkorc1-31096368t-and-31096368t"
},
"name": "example-genotype-vkorc1-31096368t-and-31096368t",
"description": "Example of Genotype profile representing VKORC1 T and T 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-cyp2c19-1b"
},
"name": "example-haplotype-cyp2c19-1b",
"description": "Example of Haplotype profile representing CYP2C19*1.002 (CYP2C192*1B) as T at 124 and G at 1016 in reference to NM_000769.4",
"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-cyp2c19-1c"
},
"name": "example-haplotype-cyp2c19-1c",
"description": "Example of Haplotype profile representing CYP2C19*1.003 (CYP2C19*1C) as G at 1016 in reference to NM_000769.4",
"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-haplotype-vkorc1-31096368c"
},
"name": "example-haplotype-vkorc1-31096368c",
"description": "Example of Haplotype profile representing VKORC1 rs9923231 reference (C) at 31096368 in reference to NC_000016.10",
"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-vkorc1-31096368t"
},
"name": "example-haplotype-vkorc1-31096368t",
"description": "Example of Haplotype profile representing VKORC1 having (T) at 31096368 in reference to NC_000016.10",
"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"
}
],
"reference": {
"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-nc00001610-url"
},
"name": "example-sequence-nc00001610-url",
"description": "A sequence represented as a resolvable URL, Homo sapiens chromosome 16, GRCh38.p14 Primary Assembly, NC_000016.10",
"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-cyp2c19-1015-spdi-coded"
},
"name": "example-variation-cyp2c19-1015-spdi-coded",
"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-cyp2c19-1015-vcf"
},
"name": "example-variation-cyp2c19-1015-vcf",
"description": "Example of Variation profile of CYP2C19 at Position 1015 as VCF",
"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-cyp2c19-1015-vrs"
},
"name": "example-variation-cyp2c19-1015-vrs",
"description": "Example of Variation profile of CYP2C19 at Position 1015 as VRS",
"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-cyp2c19-991-hgvs"
},
"name": "example-variation-cyp2c19-991-hgvs",
"description": "Example of Variation profile of CYP2C19 at Position 911 as HGVS",
"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": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-variation-tri-allelic-ABCB1-coded"
},
"name": "example-variation-tri-allelic-ABCB1-coded",
"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 MolecularDefinition",
"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 MolecularDefinition Resource",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/encodings"
},
"name": "Molecular Definition Encodings ValueSet",
"description": "Molecular Definition Encodings terms that describe various encoding schemas.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/molecular-definition-focus"
},
"name": "Molecular Definition Focus",
"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"
},
"name": "Molecular Definition Focus ValueSet",
"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": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/molecule-type"
},
"name": "Molecule Type ValueSet",
"description": "Molecule type terms that describe various genomic molucles, e.g., DNA or RNA.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/normalization-method"
},
"name": "Normalization Method",
"description": "Methods for normalizing sequence variants",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/normalization-method"
},
"name": "Normalization Method ValueSet",
"description": "Normalization method of genomic sequence, e.g., left or right shift.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/nucleotide-dna-1letter-ambiguous"
},
"name": "Nucleotide DNA 1-letter Ambiguous Symbols ValueSet",
"description": "Single-letter ambiguous symbols for DNA residues.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
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