0.2.0 - ci-build
GO_FHIR - Local Development build (v0.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Active as of 2024-12-11 |
{
"resourceType" : "CodeSystem",
"id" : "mutation-type-codesystem",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem mutation-type-codesystem</b></p><a name=\"mutation-type-codesystem\"> </a><a name=\"hcmutation-type-codesystem\"> </a><a name=\"mutation-type-codesystem-en-US\"> </a><p>This code system <code>http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">promoter<a name=\"mutation-type-codesystem-promoter\"> </a></td><td>Promoter</td></tr><tr><td style=\"white-space:nowrap\">start-codon<a name=\"mutation-type-codesystem-start-codon\"> </a></td><td>Start Codon</td></tr><tr><td style=\"white-space:nowrap\">splice-acceptor-site<a name=\"mutation-type-codesystem-splice-acceptor-site\"> </a></td><td>Splice Acceptor Site</td></tr><tr><td style=\"white-space:nowrap\">splice-donor-site<a name=\"mutation-type-codesystem-splice-donor-site\"> </a></td><td>Splice Donor Site</td></tr><tr><td style=\"white-space:nowrap\">intronic<a name=\"mutation-type-codesystem-intronic\"> </a></td><td>Intronic</td></tr><tr><td style=\"white-space:nowrap\">splice-region<a name=\"mutation-type-codesystem-splice-region\"> </a></td><td>Splice Region</td></tr><tr><td style=\"white-space:nowrap\">5'UTR<a name=\"mutation-type-codesystem-5.39UTR\"> </a></td><td>5' UTR</td></tr><tr><td style=\"white-space:nowrap\">3'UTR<a name=\"mutation-type-codesystem-3.39UTR\"> </a></td><td>3' UTR</td></tr><tr><td style=\"white-space:nowrap\">substitution-coding-silent<a name=\"mutation-type-codesystem-substitution-coding-silent\"> </a></td><td>Substitution - coding silent</td></tr><tr><td style=\"white-space:nowrap\">nonstop-extension<a name=\"mutation-type-codesystem-nonstop-extension\"> </a></td><td>Nonstop extension</td></tr><tr><td style=\"white-space:nowrap\">substitution-nonsense<a name=\"mutation-type-codesystem-substitution-nonsense\"> </a></td><td>Substitution - Nonsense</td></tr><tr><td style=\"white-space:nowrap\">substitution-missense<a name=\"mutation-type-codesystem-substitution-missense\"> </a></td><td>Substitution - Missense</td></tr><tr><td style=\"white-space:nowrap\">deletion-in-frame<a name=\"mutation-type-codesystem-deletion-in-frame\"> </a></td><td>Deletion - In frame</td></tr><tr><td style=\"white-space:nowrap\">insertion-in-frame<a name=\"mutation-type-codesystem-insertion-in-frame\"> </a></td><td>Insertion - In frame</td></tr><tr><td style=\"white-space:nowrap\">complex-deletion-inframe<a name=\"mutation-type-codesystem-complex-deletion-inframe\"> </a></td><td>Complex - deletion inframe</td></tr><tr><td style=\"white-space:nowrap\">complex-insertion-inframe<a name=\"mutation-type-codesystem-complex-insertion-inframe\"> </a></td><td>Complex - insertion inframe</td></tr><tr><td style=\"white-space:nowrap\">complex-compound-substitution<a name=\"mutation-type-codesystem-complex-compound-substitution\"> </a></td><td>Complex - compound substitution</td></tr><tr><td style=\"white-space:nowrap\">frameshift<a name=\"mutation-type-codesystem-frameshift\"> </a></td><td>Frameshift</td></tr><tr><td style=\"white-space:nowrap\">amplification<a name=\"mutation-type-codesystem-amplification\"> </a></td><td>Amplification</td></tr><tr><td style=\"white-space:nowrap\">loss<a name=\"mutation-type-codesystem-loss\"> </a></td><td>Loss</td></tr><tr><td style=\"white-space:nowrap\">fusion<a name=\"mutation-type-codesystem-fusion\"> </a></td><td>Fusion</td></tr><tr><td style=\"white-space:nowrap\">itd<a name=\"mutation-type-codesystem-itd\"> </a></td><td>ITD</td></tr><tr><td style=\"white-space:nowrap\">exon-skipping<a name=\"mutation-type-codesystem-exon-skipping\"> </a></td><td>Exon Skipping</td></tr></table></div>"
},
"url" : "http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem",
"version" : "0.2.0",
"name" : "MutationType",
"title" : "GenomOncology Mutation Types",
"status" : "active",
"date" : "2024-12-11T19:26:03+00:00",
"publisher" : "GenomOncology",
"contact" : [
{
"name" : "GenomOncology",
"telecom" : [
{
"system" : "url",
"value" : "http://genomoncology.com"
}
]
}
],
"description" : "Mutation types for variants defined by GenomOncology.",
"content" : "complete",
"count" : 23,
"concept" : [
{
"code" : "promoter",
"display" : "Promoter"
},
{
"code" : "start-codon",
"display" : "Start Codon"
},
{
"code" : "splice-acceptor-site",
"display" : "Splice Acceptor Site"
},
{
"code" : "splice-donor-site",
"display" : "Splice Donor Site"
},
{
"code" : "intronic",
"display" : "Intronic"
},
{
"code" : "splice-region",
"display" : "Splice Region"
},
{
"code" : "5'UTR",
"display" : "5' UTR"
},
{
"code" : "3'UTR",
"display" : "3' UTR"
},
{
"code" : "substitution-coding-silent",
"display" : "Substitution - coding silent"
},
{
"code" : "nonstop-extension",
"display" : "Nonstop extension"
},
{
"code" : "substitution-nonsense",
"display" : "Substitution - Nonsense"
},
{
"code" : "substitution-missense",
"display" : "Substitution - Missense"
},
{
"code" : "deletion-in-frame",
"display" : "Deletion - In frame"
},
{
"code" : "insertion-in-frame",
"display" : "Insertion - In frame"
},
{
"code" : "complex-deletion-inframe",
"display" : "Complex - deletion inframe"
},
{
"code" : "complex-insertion-inframe",
"display" : "Complex - insertion inframe"
},
{
"code" : "complex-compound-substitution",
"display" : "Complex - compound substitution"
},
{
"code" : "frameshift",
"display" : "Frameshift"
},
{
"code" : "amplification",
"display" : "Amplification"
},
{
"code" : "loss",
"display" : "Loss"
},
{
"code" : "fusion",
"display" : "Fusion"
},
{
"code" : "itd",
"display" : "ITD"
},
{
"code" : "exon-skipping",
"display" : "Exon Skipping"
}
]
}