Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build
Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build
Molecular Definition Implementation Guide for Molecular Data Types, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 1.0.0-ballot1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/molecular-definition-data-types/ and changes regularly. See the Directory of published versions
{
"resourceType" : "MolecularDefinition",
"id" : "example-sequence-fmr1-cgg-20x-edited-contained",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: MolecularDefinition example-sequence-fmr1-cgg-20x-edited-contained</b></p><a name=\"example-sequence-fmr1-cgg-20x-edited-contained\"> </a><a name=\"hcexample-sequence-fmr1-cgg-20x-edited-contained\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-sequence.html\">Sequence</a></p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><p><b>type</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><blockquote><p><b>representation</b></p><blockquote><p><b>relative</b></p><p><b>startingMolecule</b>: <a href=\"MolecularDefinition-example-sequence-fmr1-cgg-20x-repeat.html\">CGG 20X</a></p><blockquote><p><b>edit</b></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>System</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></td></tr></table></blockquote><p><b>replacementMolecule</b>: <a href=\"#hcexample-sequence-fmr1-cgg-20x-edited-contained/replacement\">A</a></p><p><b>replacedMolecule</b>: <a href=\"#hcexample-sequence-fmr1-cgg-20x-edited-contained/replaced\">C</a></p></blockquote></blockquote></blockquote><hr/><blockquote><p class=\"res-header-id\"><b>Generated Narrative: MolecularDefinition #replacement</b></p><a name=\"example-sequence-fmr1-cgg-20x-edited-contained/replacement\"> </a><a name=\"hcexample-sequence-fmr1-cgg-20x-edited-contained/replacement\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-sequence.html\">Sequence</a></p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><p><b>type</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><blockquote><p><b>representation</b></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Encoding</b></td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/encodings nucleotide-dna-1letter-unambiguous}\">Nucleotide DNA 1-letter Unambiguous Symbols</span></td><td>A</td></tr></table></blockquote></blockquote><hr/><blockquote><p class=\"res-header-id\"><b>Generated Narrative: MolecularDefinition #replaced</b></p><a name=\"example-sequence-fmr1-cgg-20x-edited-contained/replaced\"> </a><a name=\"hcexample-sequence-fmr1-cgg-20x-edited-contained/replaced\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-sequence.html\">Sequence</a></p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><p><b>type</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><blockquote><p><b>representation</b></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Encoding</b></td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/encodings nucleotide-dna-1letter-unambiguous}\">Nucleotide DNA 1-letter Unambiguous Symbols</span></td><td>C</td></tr></table></blockquote></blockquote></div>"
},
"contained" : [
{
"resourceType" : "MolecularDefinition",
"id" : "replacement",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
"moleculeType" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
"code" : "dna",
"display" : "DNA Sequence"
}
]
},
"type" : [
{
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
"code" : "dna",
"display" : "DNA Sequence"
}
]
}
],
"representation" : [
{
"literal" : {
"encoding" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/encodings",
"code" : "nucleotide-dna-1letter-unambiguous",
"display" : "Nucleotide DNA 1-letter Unambiguous Symbols"
}
]
},
"value" : "A"
}
}
]
},
{
"resourceType" : "MolecularDefinition",
"id" : "replaced",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/sequence"
]
},
"moleculeType" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
"code" : "dna",
"display" : "DNA Sequence"
}
]
},
"type" : [
{
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
"code" : "dna",
"display" : "DNA Sequence"
}
]
}
],
"representation" : [
{
"literal" : {
"encoding" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/encodings",
"code" : "nucleotide-dna-1letter-unambiguous",
"display" : "Nucleotide DNA 1-letter Unambiguous Symbols"
}
]
},
"value" : "C"
}
}
]
}
],
"moleculeType" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
"code" : "dna",
"display" : "DNA Sequence"
}
]
},
"type" : [
{
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
"code" : "dna",
"display" : "DNA Sequence"
}
]
}
],
"representation" : [
{
"relative" : {
"startingMolecule" : {
🔗 "reference" : "MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat",
"type" : "MolecularDefinition",
"display" : "CGG 20X"
},
"edit" : [
{
"coordinateInterval" : {
"coordinateSystem" : {
"system" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA30102-0",
"display" : "1-based character counting"
}
]
}
}
},
"replacementMolecule" : {
"reference" : "#replacement",
"type" : "MolecularDefinition",
"display" : "A"
},
"replacedMolecule" : {
"reference" : "#replaced",
"type" : "MolecularDefinition",
"display" : "C"
}
}
]
}
}
]
}