NCPI FHIR Implementation Guide
0.2.0 - ci-build
NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions
| Active as of 2019-03-20 |
@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:CodeSystem;
fhir:nodeRole fhir:treeRoot;
fhir:Resource.id [ fhir:value "v3-hgvs"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>http://varnomen.hgvs.org</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td></tr><tr><td style=\"white-space:nowrap\">c.10283T>G<a name=\"v3-hgvs-c.4610283T.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1090delA<a name=\"v3-hgvs-c.461090delA\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1100 G>T<a name=\"v3-hgvs-c.461100G.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1130G>A<a name=\"v3-hgvs-c.461130G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.11521C>G<a name=\"v3-hgvs-c.4611521C.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1152_1170del<a name=\"v3-hgvs-c.461152_1170del\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1243A>C<a name=\"v3-hgvs-c.461243A.62C\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1378C>T<a name=\"v3-hgvs-c.461378C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1528 G>C<a name=\"v3-hgvs-c.461528G.62C\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1558C>T<a name=\"v3-hgvs-c.461558C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1559C>T<a name=\"v3-hgvs-c.461559C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.158G>T<a name=\"v3-hgvs-c.46158G.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1640A>G<a name=\"v3-hgvs-c.461640A.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1720C>T<a name=\"v3-hgvs-c.461720C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.1823T>G<a name=\"v3-hgvs-c.461823T.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2056+1G>T<a name=\"v3-hgvs-c.462056.431G.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2159 A>T<a name=\"v3-hgvs-c.462159A.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.223delG<a name=\"v3-hgvs-c.46223delG\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2258C>G<a name=\"v3-hgvs-c.462258C.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.226C>T<a name=\"v3-hgvs-c.46226C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2303C>T<a name=\"v3-hgvs-c.462303C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2332G>A<a name=\"v3-hgvs-c.462332G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2405G>T<a name=\"v3-hgvs-c.462405G.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2471T>C<a name=\"v3-hgvs-c.462471T.62C\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2539_2541del<a name=\"v3-hgvs-c.462539_2541del\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.257 G>A<a name=\"v3-hgvs-c.46257G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.265T>A<a name=\"v3-hgvs-c.46265T.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2662G>A<a name=\"v3-hgvs-c.462662G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.2674C>A<a name=\"v3-hgvs-c.462674C.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.26_28delAGC<a name=\"v3-hgvs-c.4626_28delAGC\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.296 C>T<a name=\"v3-hgvs-c.46296C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.314delA<a name=\"v3-hgvs-c.46314delA\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.320del<a name=\"v3-hgvs-c.46320del\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.3478G>A<a name=\"v3-hgvs-c.463478G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.349 C>T<a name=\"v3-hgvs-c.46349C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.350delC<a name=\"v3-hgvs-c.46350delC\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.4009 G>A<a name=\"v3-hgvs-c.464009G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.416T>G<a name=\"v3-hgvs-c.46416T.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.441_457del<a name=\"v3-hgvs-c.46441_457del\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.448 C>G<a name=\"v3-hgvs-c.46448C.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.481C>G<a name=\"v3-hgvs-c.46481C.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.5 A>G<a name=\"v3-hgvs-c.465A.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.5294G>A<a name=\"v3-hgvs-c.465294G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.5375C>T<a name=\"v3-hgvs-c.465375C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.5380C>T<a name=\"v3-hgvs-c.465380C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.5549C>G<a name=\"v3-hgvs-c.465549C.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.5693 G>A<a name=\"v3-hgvs-c.465693G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.619 G>A<a name=\"v3-hgvs-c.46619G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.685+1G>C<a name=\"v3-hgvs-c.46685.431G.62C\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.7003C>T<a name=\"v3-hgvs-c.467003C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.700C>A<a name=\"v3-hgvs-c.46700C.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.716C>G<a name=\"v3-hgvs-c.46716C.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.760 C>A<a name=\"v3-hgvs-c.46760C.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.7955G>A<a name=\"v3-hgvs-c.467955G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.7975C>T<a name=\"v3-hgvs-c.467975C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.8056C>G<a name=\"v3-hgvs-c.468056C.62G\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.851G>C<a name=\"v3-hgvs-c.46851G.62C\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.863_864insACCT<a name=\"v3-hgvs-c.46863_864insACCT\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.868G>A<a name=\"v3-hgvs-c.46868G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.931C>T<a name=\"v3-hgvs-c.46931C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.9552G>A<a name=\"v3-hgvs-c.469552G.62A\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.959C>T<a name=\"v3-hgvs-c.46959C.62T\"> </a></td></tr><tr><td style=\"white-space:nowrap\">c.[711G>T;712C>A]<a name=\"v3-hgvs-c.46.91711G.62T.59712C.62A.93\"> </a></td></tr><tr><td style=\"white-space:nowrap\">p.(Arg2659Trp)<a name=\"v3-hgvs-p.46.40Arg2659Trp.41\"> </a></td></tr><tr><td style=\"white-space:nowrap\">p.(Gln9del)<a name=\"v3-hgvs-p.46.40Gln9del.41\"> </a></td></tr><tr><td style=\"white-space:nowrap\">p.(Leu3428Arg)<a name=\"v3-hgvs-p.46.40Leu3428Arg.41\"> </a></td></tr><tr><td style=\"white-space:nowrap\">p.(Met3184Ile)<a name=\"v3-hgvs-p.46.40Met3184Ile.41\"> </a></td></tr><tr><td style=\"white-space:nowrap\">p.(Pro460Ser)<a name=\"v3-hgvs-p.46.40Pro460Ser.41\"> </a></td></tr></table></div>"
]; #
fhir:CodeSystem.url [ fhir:value "http://varnomen.hgvs.org"]; #
fhir:CodeSystem.identifier [
fhir:index 0;
fhir:Identifier.system [ fhir:value "urn:ietf:rfc:3986" ];
fhir:Identifier.value [ fhir:value "urn:oid:2.16.840.1.113883.6.282" ]
]; #
fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
fhir:CodeSystem.name [ fhir:value "Hgvs"]; #
fhir:CodeSystem.title [ fhir:value "Human Genome Variation Society nomenclature"]; #
fhir:CodeSystem.status [ fhir:value "active"]; #
fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
fhir:CodeSystem.date [ fhir:value "2019-03-20T00:00:00-04:00"^^xsd:dateTime]; #
fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
fhir:ContactDetail.telecom [
fhir:index 0;
fhir:ContactPoint.system [ fhir:value "url" ];
fhir:ContactPoint.value [ fhir:value "https://github.com/nih-ncpi" ] ]
], [
fhir:index 1;
fhir:ContactDetail.name [ fhir:value "Meen Chul Kim" ];
fhir:ContactDetail.telecom [
fhir:index 0;
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
]; #
fhir:CodeSystem.description [ fhir:value "HGVS nomenclatures are the guidelines for mutation nomenclature made by the Human Genome Variation Society.\n\nHGVS nomenclature can be used with the HL7 coded data type (code data type that accepts expression data, or a coded expression data type). This coded data type should be able to distinguish expressions in HGVS nomenclature from coded concepts. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, HGVS nomenclature can be used to as the observation values for DNA sequence variations. For example, OBX|1|CWE|48004-6^DNA Sequence Variation^LN||c.1129C>T^^HGVS|\n\nVersioning information: The HGVS nomenclature for the description of sequence variants was last modified Feb 20, 2008. The HGVS nomenclature for the description of protein sequence variants was last modified May 12, 2007. The HGVS nomenclature for the description of DNA sequence variants was last modified June 15, 2007 The HGVS nomenclature for the description of RNA sequence variants was last modified May 12, 2007\n\nHGVS nomenclatures can be used freely by the public."]; #
fhir:CodeSystem.content [ fhir:value "complete"]; #
fhir:CodeSystem.count [ fhir:value "68"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "c.10283T>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.10283T>G" ]
], [
fhir:index 1;
fhir:CodeSystem.concept.code [ fhir:value "c.1090delA" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1090delA" ]
], [
fhir:index 2;
fhir:CodeSystem.concept.code [ fhir:value "c.1100 G>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1100 G>T" ]
], [
fhir:index 3;
fhir:CodeSystem.concept.code [ fhir:value "c.1130G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1130G>A" ]
], [
fhir:index 4;
fhir:CodeSystem.concept.code [ fhir:value "c.11521C>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.11521C>G" ]
], [
fhir:index 5;
fhir:CodeSystem.concept.code [ fhir:value "c.1152_1170del" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1152_1170del" ]
], [
fhir:index 6;
fhir:CodeSystem.concept.code [ fhir:value "c.1243A>C" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1243A>C" ]
], [
fhir:index 7;
fhir:CodeSystem.concept.code [ fhir:value "c.1378C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1378C>T" ]
], [
fhir:index 8;
fhir:CodeSystem.concept.code [ fhir:value "c.1528 G>C" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1528 G>C" ]
], [
fhir:index 9;
fhir:CodeSystem.concept.code [ fhir:value "c.1558C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1558C>T" ]
], [
fhir:index 10;
fhir:CodeSystem.concept.code [ fhir:value "c.1559C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1559C>T" ]
], [
fhir:index 11;
fhir:CodeSystem.concept.code [ fhir:value "c.158G>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.158G>T" ]
], [
fhir:index 12;
fhir:CodeSystem.concept.code [ fhir:value "c.1640A>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1640A>G" ]
], [
fhir:index 13;
fhir:CodeSystem.concept.code [ fhir:value "c.1720C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1720C>T" ]
], [
fhir:index 14;
fhir:CodeSystem.concept.code [ fhir:value "c.1823T>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.1823T>G" ]
], [
fhir:index 15;
fhir:CodeSystem.concept.code [ fhir:value "c.2056+1G>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2056+1G>T" ]
], [
fhir:index 16;
fhir:CodeSystem.concept.code [ fhir:value "c.2159 A>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2159 A>T" ]
], [
fhir:index 17;
fhir:CodeSystem.concept.code [ fhir:value "c.223delG" ];
fhir:CodeSystem.concept.display [ fhir:value "c.223delG" ]
], [
fhir:index 18;
fhir:CodeSystem.concept.code [ fhir:value "c.2258C>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2258C>G" ]
], [
fhir:index 19;
fhir:CodeSystem.concept.code [ fhir:value "c.226C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.226C>T" ]
], [
fhir:index 20;
fhir:CodeSystem.concept.code [ fhir:value "c.2303C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2303C>T" ]
], [
fhir:index 21;
fhir:CodeSystem.concept.code [ fhir:value "c.2332G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2332G>A" ]
], [
fhir:index 22;
fhir:CodeSystem.concept.code [ fhir:value "c.2405G>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2405G>T" ]
], [
fhir:index 23;
fhir:CodeSystem.concept.code [ fhir:value "c.2471T>C" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2471T>C" ]
], [
fhir:index 24;
fhir:CodeSystem.concept.code [ fhir:value "c.2539_2541del" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2539_2541del" ]
], [
fhir:index 25;
fhir:CodeSystem.concept.code [ fhir:value "c.257 G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.257 G>A" ]
], [
fhir:index 26;
fhir:CodeSystem.concept.code [ fhir:value "c.265T>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.265T>A" ]
], [
fhir:index 27;
fhir:CodeSystem.concept.code [ fhir:value "c.2662G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2662G>A" ]
], [
fhir:index 28;
fhir:CodeSystem.concept.code [ fhir:value "c.2674C>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.2674C>A" ]
], [
fhir:index 29;
fhir:CodeSystem.concept.code [ fhir:value "c.26_28delAGC" ];
fhir:CodeSystem.concept.display [ fhir:value "c.26_28delAGC" ]
], [
fhir:index 30;
fhir:CodeSystem.concept.code [ fhir:value "c.296 C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.296 C>T" ]
], [
fhir:index 31;
fhir:CodeSystem.concept.code [ fhir:value "c.314delA" ];
fhir:CodeSystem.concept.display [ fhir:value "c.314delA" ]
], [
fhir:index 32;
fhir:CodeSystem.concept.code [ fhir:value "c.320del" ];
fhir:CodeSystem.concept.display [ fhir:value "c.320del" ]
], [
fhir:index 33;
fhir:CodeSystem.concept.code [ fhir:value "c.3478G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.3478G>A" ]
], [
fhir:index 34;
fhir:CodeSystem.concept.code [ fhir:value "c.349 C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.349 C>T" ]
], [
fhir:index 35;
fhir:CodeSystem.concept.code [ fhir:value "c.350delC" ];
fhir:CodeSystem.concept.display [ fhir:value "c.350delC" ]
], [
fhir:index 36;
fhir:CodeSystem.concept.code [ fhir:value "c.4009 G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.4009 G>A" ]
], [
fhir:index 37;
fhir:CodeSystem.concept.code [ fhir:value "c.416T>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.416T>G" ]
], [
fhir:index 38;
fhir:CodeSystem.concept.code [ fhir:value "c.441_457del" ];
fhir:CodeSystem.concept.display [ fhir:value "c.441_457del" ]
], [
fhir:index 39;
fhir:CodeSystem.concept.code [ fhir:value "c.448 C>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.448 C>G" ]
], [
fhir:index 40;
fhir:CodeSystem.concept.code [ fhir:value "c.481C>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.481C>G" ]
], [
fhir:index 41;
fhir:CodeSystem.concept.code [ fhir:value "c.5 A>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.5 A>G" ]
], [
fhir:index 42;
fhir:CodeSystem.concept.code [ fhir:value "c.5294G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.5294G>A" ]
], [
fhir:index 43;
fhir:CodeSystem.concept.code [ fhir:value "c.5375C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.5375C>T" ]
], [
fhir:index 44;
fhir:CodeSystem.concept.code [ fhir:value "c.5380C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.5380C>T" ]
], [
fhir:index 45;
fhir:CodeSystem.concept.code [ fhir:value "c.5549C>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.5549C>G" ]
], [
fhir:index 46;
fhir:CodeSystem.concept.code [ fhir:value "c.5693 G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.5693 G>A" ]
], [
fhir:index 47;
fhir:CodeSystem.concept.code [ fhir:value "c.619 G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.619 G>A" ]
], [
fhir:index 48;
fhir:CodeSystem.concept.code [ fhir:value "c.685+1G>C" ];
fhir:CodeSystem.concept.display [ fhir:value "c.685+1G>C" ]
], [
fhir:index 49;
fhir:CodeSystem.concept.code [ fhir:value "c.7003C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.7003C>T" ]
], [
fhir:index 50;
fhir:CodeSystem.concept.code [ fhir:value "c.700C>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.700C>A" ]
], [
fhir:index 51;
fhir:CodeSystem.concept.code [ fhir:value "c.716C>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.716C>G" ]
], [
fhir:index 52;
fhir:CodeSystem.concept.code [ fhir:value "c.760 C>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.760 C>A" ]
], [
fhir:index 53;
fhir:CodeSystem.concept.code [ fhir:value "c.7955G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.7955G>A" ]
], [
fhir:index 54;
fhir:CodeSystem.concept.code [ fhir:value "c.7975C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.7975C>T" ]
], [
fhir:index 55;
fhir:CodeSystem.concept.code [ fhir:value "c.8056C>G" ];
fhir:CodeSystem.concept.display [ fhir:value "c.8056C>G" ]
], [
fhir:index 56;
fhir:CodeSystem.concept.code [ fhir:value "c.851G>C" ];
fhir:CodeSystem.concept.display [ fhir:value "c.851G>C" ]
], [
fhir:index 57;
fhir:CodeSystem.concept.code [ fhir:value "c.863_864insACCT" ];
fhir:CodeSystem.concept.display [ fhir:value "c.863_864insACCT" ]
], [
fhir:index 58;
fhir:CodeSystem.concept.code [ fhir:value "c.868G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.868G>A" ]
], [
fhir:index 59;
fhir:CodeSystem.concept.code [ fhir:value "c.931C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.931C>T" ]
], [
fhir:index 60;
fhir:CodeSystem.concept.code [ fhir:value "c.9552G>A" ];
fhir:CodeSystem.concept.display [ fhir:value "c.9552G>A" ]
], [
fhir:index 61;
fhir:CodeSystem.concept.code [ fhir:value "c.959C>T" ];
fhir:CodeSystem.concept.display [ fhir:value "c.959C>T" ]
], [
fhir:index 62;
fhir:CodeSystem.concept.code [ fhir:value "c.[711G>T;712C>A]" ];
fhir:CodeSystem.concept.display [ fhir:value "c.[711G>T;712C>A]" ]
], [
fhir:index 63;
fhir:CodeSystem.concept.code [ fhir:value "p.(Arg2659Trp)" ];
fhir:CodeSystem.concept.display [ fhir:value "p.(Arg2659Trp)" ]
], [
fhir:index 64;
fhir:CodeSystem.concept.code [ fhir:value "p.(Gln9del)" ];
fhir:CodeSystem.concept.display [ fhir:value "p.(Gln9del)" ]
], [
fhir:index 65;
fhir:CodeSystem.concept.code [ fhir:value "p.(Leu3428Arg)" ];
fhir:CodeSystem.concept.display [ fhir:value "p.(Leu3428Arg)" ]
], [
fhir:index 66;
fhir:CodeSystem.concept.code [ fhir:value "p.(Met3184Ile)" ];
fhir:CodeSystem.concept.display [ fhir:value "p.(Met3184Ile)" ]
], [
fhir:index 67;
fhir:CodeSystem.concept.code [ fhir:value "p.(Pro460Ser)" ];
fhir:CodeSystem.concept.display [ fhir:value "p.(Pro460Ser)" ]
]. #
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.
IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
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