Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
: DNA Change Type Map - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:ConceptMap ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "dna-change-type-map"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ConceptMap dna-change-type-map</b></p><a name=\"dna-change-type-map\"> </a><a name=\"hcdna-change-type-map\"> </a><a name=\"dna-change-type-map-en-US\"> </a><p>Mapping from http://loinc.org/vs/LL379-9 to <a href=\"ValueSet-dna-change-type-vs.html\">DNA Change Type</a></p><br/><p><b>Group 1 </b>Mapping from <a href=\"http://terminology.hl7.org/6.1.0/CodeSystem-v3-loinc.html\">Logical Observation Identifiers, Names and Codes (LOINC)</a> to <a href=\"http://terminology.hl7.org/6.1.0/CodeSystem-SO.html\">Sequence Ontology</a></p><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td></tr><tr><td>LA9658-1 (Wild type)</td><td><a href=\"http://hl7.org/fhir/extensions/5.1.0/CodeSystem-concept-map-equivalence.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>SO:0002073 (no_sequence_alteration)</td></tr><tr><td>LA6692-3 (Deletion)</td><td><a href=\"http://hl7.org/fhir/extensions/5.1.0/CodeSystem-concept-map-equivalence.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>SO:0000159 (deletion)</td></tr><tr><td>LA6686-5 (Duplication)</td><td><a href=\"http://hl7.org/fhir/extensions/5.1.0/CodeSystem-concept-map-equivalence.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>SO:1000035 (duplication)</td></tr><tr><td>LA6687-3 (Insertion)</td><td><a href=\"http://hl7.org/fhir/extensions/5.1.0/CodeSystem-concept-map-equivalence.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>SO:0000667 (insertion)</td></tr><tr><td>LA6688-1 (Insertion/Deletion)</td><td><a href=\"http://hl7.org/fhir/extensions/5.1.0/CodeSystem-concept-map-equivalence.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>SO:1000032 (delins)</td></tr><tr><td>LA6689-9 (Inversion)</td><td><a href=\"http://hl7.org/fhir/extensions/5.1.0/CodeSystem-concept-map-equivalence.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>SO:1000036 (inversion)</td></tr><tr><td>LA6690-7 (Substitution)</td><td><a href=\"http://hl7.org/fhir/extensions/5.1.0/CodeSystem-concept-map-equivalence.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>SO:1000002 (substitution)</td></tr></table></div>"
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cg" ]
] ) ; #
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map"^^xsd:anyURI] ; #
fhir:version [ fhir:v "3.0.0"] ; #
fhir:name [ fhir:v "DNAChangeType"] ; #
fhir:title [ fhir:v "DNA Change Type Map"] ; #
fhir:status [ fhir:v "draft"] ; #
fhir:experimental [ fhir:v "false"^^xsd:boolean] ; #
fhir:date [ fhir:v "2024-12-12T20:13:16+00:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "HL7 International / Clinical Genomics"] ; #
fhir:contact ( [
fhir:name [ fhir:v "HL7 International / Clinical Genomics" ] ;
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ] ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "cg@lists.HL7.org" ] ] )
] ) ; #
fhir:description [ fhir:v "LOINC and SequenceOntology mappings for dna change type"] ; #
fhir:jurisdiction ( [
( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ] ] )
] ) ; #
fhir:copyright [ fhir:v "This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc."] ; #
fhir:source [
fhir:v "http://loinc.org/vs/LL379-9"^^xsd:anyURI ;
fhir:link <http://loinc.org/vs/LL379-9>
] ; #
fhir:target [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs>
] ; #
fhir:group ( [
fhir:source [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:target [ fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ] ;
( fhir:element [
fhir:code [ fhir:v "LA9658-1" ] ;
fhir:display [ fhir:v "Wild type" ] ;
( fhir:target [
fhir:code [ fhir:v "SO:0002073" ] ;
fhir:display [ fhir:v "no_sequence_alteration" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ] ) ] [
fhir:code [ fhir:v "LA6692-3" ] ;
fhir:display [ fhir:v "Deletion" ] ;
( fhir:target [
fhir:code [ fhir:v "SO:0000159" ] ;
fhir:display [ fhir:v "deletion" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ] ) ] [
fhir:code [ fhir:v "LA6686-5" ] ;
fhir:display [ fhir:v "Duplication" ] ;
( fhir:target [
fhir:code [ fhir:v "SO:1000035" ] ;
fhir:display [ fhir:v "duplication" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ] ) ] [
fhir:code [ fhir:v "LA6687-3" ] ;
fhir:display [ fhir:v "Insertion" ] ;
( fhir:target [
fhir:code [ fhir:v "SO:0000667" ] ;
fhir:display [ fhir:v "insertion" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ] ) ] [
fhir:code [ fhir:v "LA6688-1" ] ;
fhir:display [ fhir:v "Insertion/Deletion" ] ;
( fhir:target [
fhir:code [ fhir:v "SO:1000032" ] ;
fhir:display [ fhir:v "delins" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ] ) ] [
fhir:code [ fhir:v "LA6689-9" ] ;
fhir:display [ fhir:v "Inversion" ] ;
( fhir:target [
fhir:code [ fhir:v "SO:1000036" ] ;
fhir:display [ fhir:v "inversion" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ] ) ] [
fhir:code [ fhir:v "LA6690-7" ] ;
fhir:display [ fhir:v "Substitution" ] ;
( fhir:target [
fhir:code [ fhir:v "SO:1000002" ] ;
fhir:display [ fhir:v "substitution" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ] ) ] )
] ) . #
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