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
: Molecular Definition Focus - TTL Representation
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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 "molecular-definition-focus"] ; #
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: CodeSystem molecular-definition-focus</b></p><a name=\"molecular-definition-focus\"> </a><a name=\"hcmolecular-definition-focus\"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-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\">context-state<a name=\"molecular-definition-focus-context-state\"> </a></td><td>Context State</td><td>Context State is the current state of the molecule at this location.</td></tr><tr><td style=\"white-space:nowrap\">allele-state<a name=\"molecular-definition-focus-allele-state\"> </a></td><td>Allele State</td><td>Allele State is the state of the molecule based on a specific allele.</td></tr><tr><td style=\"white-space:nowrap\">reference-state<a name=\"molecular-definition-focus-reference-state\"> </a></td><td>Reference State</td><td>Reference State is the state of the molecule based on a reference molecule.</td></tr><tr><td style=\"white-space:nowrap\">alternative-state<a name=\"molecular-definition-focus-alternative-state\"> </a></td><td>Alternative State</td><td>Alternative State is the molecule state of the molecule based on an alterntive allele.</td></tr></table></div>"^^rdf:XMLLiteral
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "cg" ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ] ;
fhir:value [
a fhir:integer ;
fhir:v 0 ;
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ] ;
fhir:value [
a fhir:canonical ;
fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types> ] ] ) ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "draft" ;
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ] ;
fhir:value [
a fhir:canonical ;
fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types> ] ] ) ]
] ) ; #
fhir:url [ fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus"^^xsd:anyURI] ; #
fhir:version [ fhir:v "1.0.0-ballot1"] ; #
fhir:name [ fhir:v "MolecularDefinitionFocus"] ; #
fhir:title [ fhir:v "Molecular Definition Focus"] ; #
fhir:status [ fhir:v "draft"] ; #
fhir:experimental [ fhir:v false] ; #
fhir:date [ fhir:v "2025-09-05T20:30:49+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 "Molecular Definition Focus terms that describe various representation elements."] ; #
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:caseSensitive [ fhir:v true] ; #
fhir:content [ fhir:v "complete"] ; #
fhir:count [ fhir:v "4"^^xsd:nonNegativeInteger] ; #
fhir:concept ( [
fhir:code [ fhir:v "context-state" ] ;
fhir:display [ fhir:v "Context State" ] ;
fhir:definition [ fhir:v "Context State is the current state of the molecule at this location." ]
] [
fhir:code [ fhir:v "allele-state" ] ;
fhir:display [ fhir:v "Allele State" ] ;
fhir:definition [ fhir:v "Allele State is the state of the molecule based on a specific allele." ]
] [
fhir:code [ fhir:v "reference-state" ] ;
fhir:display [ fhir:v "Reference State" ] ;
fhir:definition [ fhir:v "Reference State is the state of the molecule based on a reference molecule." ]
] [
fhir:code [ fhir:v "alternative-state" ] ;
fhir:display [ fhir:v "Alternative State" ] ;
fhir:definition [ fhir:v "Alternative State is the molecule state of the molecule based on an alterntive allele." ]
] ) . #
