Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions
: Molecular Definition Representation Focus
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@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:id [ fhir:v "moleculardefinition-representation-focus"] ; #
fhir:meta [
fhir:lastUpdated [ fhir:v "2025-01-30T00:00:00Z"^^xsd:dateTime ] ;
( fhir:profile [
fhir:v "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/shareablecodesystem> ] )
] ; #
fhir:language [ fhir:v "en"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem moleculardefinition-representation-focus</b></p><a name=\"moleculardefinition-representation-focus\"> </a><a name=\"hcmoleculardefinition-representation-focus\"> </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\">Last updated: 2025-01-30 00:00:00+0000</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/R5/shareablecodesystem.html\">Shareable CodeSystem</a></p></div><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">allele-state<a name=\"moleculardefinition-representation-focus-allele-state\"> </a></td><td>Allele State</td><td>The representation defines the state of an allele at a genomic location.</td></tr><tr><td style=\"white-space:nowrap\">context-state<a name=\"moleculardefinition-representation-focus-context-state\"> </a></td><td>Context State</td><td>The representation defines the state of the genomic sequence context or background for the allele.</td></tr><tr><td style=\"white-space:nowrap\">reference-state<a name=\"moleculardefinition-representation-focus-reference-state\"> </a></td><td>Reference State</td><td>The representation defines the reference state of the sequence at a genomic location.</td></tr><tr><td style=\"white-space:nowrap\">alternative-state<a name=\"moleculardefinition-representation-focus-alternative-state\"> </a></td><td>Alternative State</td><td>The representation defines an alternative state of the sequence at a genomic location.</td></tr></table></div>"^^rdf:XMLLiteral ]
] ; #
fhir:extension ( [
fhir:url [
fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-wg> ] ;
fhir:value [
a fhir:Code ;
fhir:v "cg" ]
] [
fhir:url [
fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status> ] ;
fhir:value [
a fhir:Code ;
fhir:v "informative" ]
] [
fhir:url [
fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm> ] ;
fhir:value [
a fhir:Integer ;
fhir:v 1 ]
] ) ; #
fhir:url [
fhir:v "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus>
] ; #
fhir:identifier ( [
fhir:system [
fhir:v "urn:ietf:rfc:3986"^^xsd:anyURI ;
fhir:l <urn:ietf:rfc:3986> ] ;
fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.2050" ]
] ) ; #
fhir:version [ fhir:v "0.1.0-ci-build"] ; #
fhir:name [ fhir:v "MolecularDefinitionRepresentationFocus"] ; #
fhir:title [ fhir:v "Molecular Definition Representation Focus"] ; #
fhir:status [ fhir:v "draft"] ; #
fhir:experimental [ fhir:v true] ; #
fhir:date [ fhir:v "2025-01-30"^^xsd:date] ; #
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 "clingenomics@lists.hl7.org" ] ] )
] ) ; #
fhir:description [ fhir:v "The domain concept that is the focus of the representation in a MolecularDefinition. This element is used to disambiguate the representations of different alleles or states at a given location."] ; #
fhir:jurisdiction ( [
( fhir:coding [
fhir:system [
fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ;
fhir:l <http://unstats.un.org/unsd/methods/m49/m49.htm> ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ] ] )
] ) ; #
fhir:caseSensitive [ fhir:v true] ; #
fhir:valueSet [
fhir:v "http://hl7.org/fhir/uv/cg-incubator/ValueSet/moleculardefinition-representation-focus"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/uv/cg-incubator/ValueSet/moleculardefinition-representation-focus>
] ; #
fhir:content [ fhir:v "complete"] ; #
fhir:concept ( [
fhir:code [ fhir:v "allele-state" ] ;
fhir:display [ fhir:v "Allele State" ] ;
fhir:definition [ fhir:v "The representation defines the state of an allele at a genomic location." ]
] [
fhir:code [ fhir:v "context-state" ] ;
fhir:display [ fhir:v "Context State" ] ;
fhir:definition [ fhir:v "The representation defines the state of the genomic sequence context or background for the allele." ]
] [
fhir:code [ fhir:v "reference-state" ] ;
fhir:display [ fhir:v "Reference State" ] ;
fhir:definition [ fhir:v "The representation defines the reference state of the sequence at a genomic location." ]
] [
fhir:code [ fhir:v "alternative-state" ] ;
fhir:display [ fhir:v "Alternative State" ] ;
fhir:definition [ fhir:v "The representation defines an alternative state of the sequence at a genomic location." ]
] ) . #
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