| 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 | 2025-06-13T22:49:51+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><a name=\"hl7.fhir.uv.molecular-definition-data-types-en-US\"> </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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"title" : "Molecular Definition Implementation Guide for Molecular Data Types",
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"name" : "Coordinate Origin",
"description" : "Reference points for coordinate counting in molecular sequences",
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"reference" : "MolecularDefinition/example-allelesliced-cyp2c19-1016-cont"
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"reference" : "MolecularDefinition/example-genomic-cyp2c19-accession"
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"name" : "example-genomic-cyp2c19-accession",
"description" : "A sequence represented as a code using an accession number",
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},
{
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"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" : "DocumentReference/example-genomicfile-cyp2c19-accession"
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"name" : "example-genomicfile-cyp2c19-accession",
"description" : "CYP2C19 gene sequence",
"isExample" : true
},
{
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"name" : "example-genomicfile-cyp2c19-attached",
"description" : "CYP2C19 gene sequence",
"isExample" : true
},
{
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],
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"reference" : "DocumentReference/example-genomicfile-cyp2c19-url"
},
"name" : "example-genomicfile-cyp2c19-url",
"description" : "CYP2C19 gene sequence",
"isExample" : true
},
{
"extension" : [
{
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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"
}
],
"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",
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-nc00000714-url"
},
"name" : "example-genomicfile-nc00000714-url",
"description" : "Chr7, GRCh38.p14 sequence",
"isExample" : true
},
{
"extension" : [
{
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],
"reference" : {
"reference" : "DocumentReference/example-genomicfile-nc00001010-url"
},
"name" : "example-genomicfile-nc00001010-url",
"description" : "Chr10, GRCh37.p13 sequence",
"isExample" : true
},
{
"extension" : [
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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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"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" : [
{
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"reference" : "DocumentReference/example-genomicfile-nm0007694"
},
"name" : "example-genomicfile-nm0007694",
"description" : "(CYP2C19), mRNA",
"isExample" : true
},
{
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],
"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",
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"reference" : "MolecularDefinition/example-sequence-a-aa-iupac"
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"name" : "example-sequence-a-aa-iupac",
"description" : "Simple Sequence example with IUPAC encoding",
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"reference" : "MolecularDefinition/example-sequence-a-dna-iupac"
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"name" : "example-sequence-a-dna-iupac",
"description" : "Simple Sequence example with IUPAC encoding, A",
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"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
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"reference" : "MolecularDefinition/example-sequence-c-dna-iupac"
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"name" : "example-sequence-c-dna-iupac",
"description" : "Simple Sequence example with IUPAC encoding, C",
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"reference" : "MolecularDefinition/example-sequence-cgg"
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"name" : "example-sequence-cgg",
"description" : "Simple Sequence example of GGC sequence",
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"reference" : "MolecularDefinition/example-sequence-cyp2c19-accession"
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"name" : "example-sequence-cyp2c19-accession",
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},
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"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-concatenated-regions"
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"name" : "example-sequence-cyp2c19-concatenated-regions",
"description" : "A sequence represented as a concatenation of sequence instances",
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"reference" : "MolecularDefinition/example-sequence-cyp2c19-downstream-region"
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"name" : "example-sequence-cyp2c19-downstream-region",
"description" : "A downstream region extracted from a sequence",
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"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-gene-region"
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"name" : "example-sequence-cyp2c19-gene-region",
"description" : "A gene region extracted from a sequence",
"isExample" : true,
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},
{
"extension" : [
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"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-upstream-region"
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"name" : "example-sequence-cyp2c19-upstream-region",
"description" : "An upstream region extracted from a sequence",
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"profile" : [
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{
"extension" : [
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],
"reference" : {
"reference" : "MolecularDefinition/example-sequence-cyp2c19-url"
},
"name" : "example-sequence-cyp2c19-url",
"description" : "Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4",
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"profile" : [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
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"reference" : "MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-contained"
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"name" : "example-sequence-fmr1-cgg-20x-edited-contained",
"description" : "A sequence example composed of 20x repeats of CGG sequence edited using contained resources",
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"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" : [
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"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"
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},
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"extension" : [
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"reference" : {
"reference" : "MolecularDefinition/example-sequence-nc00000714-url"
},
"name" : "example-sequence-nc00000714-url",
"description" : "A sequence represented as a resolvable URL, NC_000007.14",
"isExample" : true,
"profile" : [
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},
{
"extension" : [
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"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"
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},
{
"extension" : [
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],
"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"
},
"name" : "Molecular Definition Focus Value Set",
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"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/molecule-type"
},
"name" : "Molecule Type",
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"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" : "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",
"description" : "Single-letter unambiguous symbols for DNA residues.",
"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",
"description" : "Single-letter unambiguous symbols for RNA residues.",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
"reference" : "StructureDefinition/sequence"
},
"name" : "Sequence",
"description" : "Sequence profile of Molecular Definition",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/strand-orientation"
},
"name" : "Strand Orientation",
"description" : "Orientation of molecular sequences, indicating directionality for nucleotides (5' to 3' or 3' to 5') or amino acids (N to C terminus)",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "CodeSystem"
}
],
"reference" : {
"reference" : "CodeSystem/topology"
},
"name" : "Topology",
"description" : "Structural arrangement of molecular sequences or modifications",
"isExample" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
"reference" : "StructureDefinition/variation"
},
"name" : "Variation",
"description" : "Variation profile of the MolecularDefinition resource.",
"isExample" : false
}
],
"page" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode" : "informative"
}
],
"sourceUrl" : "toc.html",
"name" : "toc.html",
"title" : "Table of Contents",
"generation" : "html",
"page" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode" : "informative"
}
],
"sourceUrl" : "index.html",
"name" : "index.html",
"title" : "Home",
"generation" : "markdown"
}
]
},
"parameter" : [
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "copyrightyear"
},
"value" : "2025+"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "releaselabel"
},
"value" : "ci-build"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "path-history"
},
"value" : "http://hl7.org/fhir/uv/molecular-definition-data-types/history.html"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "autoload-resources"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/capabilities"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/examples"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/extensions"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/models"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/operations"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/profiles"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/resources"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/vocabulary"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/maps"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/testing"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "input/history"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-resource"
},
"value" : "fsh-generated/resources"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-pages"
},
"value" : "template/config"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-pages"
},
"value" : "input/images"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "path-liquid"
},
"value" : "template/liquid"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "path-liquid"
},
"value" : "input/liquid"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "path-qa"
},
"value" : "temp/qa"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "path-temp"
},
"value" : "temp/pages"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "path-output"
},
"value" : "output"
},
{
"code" : {
"system" : "http://hl7.org/fhir/guide-parameter-code",
"code" : "path-tx-cache"
},
"value" : "input-cache/txcache"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "path-suppressed-warnings"
},
"value" : "input/ignoreWarnings.txt"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "template-html"
},
"value" : "template-page.html"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "template-md"
},
"value" : "template-page-md.html"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "apply-contact"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "apply-context"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "apply-copyright"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "apply-jurisdiction"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "apply-license"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "apply-publisher"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "apply-version"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "apply-wg"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "active-tables"
},
"value" : "true"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "fmm-definition"
},
"value" : "http://hl7.org/fhir/versions.html#maturity"
},
{
"code" : {
"system" : "http://hl7.org/fhir/tools/CodeSystem/ig-parameters",
"code" : "propagate-status"
},
"value" : "true"
},
{
"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.