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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ImplementationGuide rarelink-ig</b></p><a name="rarelink-ig"> </a><a name="hcrarelink-ig"> </a><a name="rarelink-ig-en-US"> </a><h2>RareLinkImplementationGuide</h2><p>The official URL for this implementation guide is: </p><pre>https://github.com/BIH-CEI/RareLink/ImplementationGuide/rarelink-ig</pre><div><p>An Implementation Guide for RareLink Common Data Model, based on the ontology-based rare disease common data model (RD-CDM) harmonising the European Rare Disease Infrastructure Common Data Set, HL7 FHIR R4, and Phenopackets; and integrating the IPS 2.0.2 profiles and Genomics Reporting 3.0.0 profiles.</p>
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<reference>🔗
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<resource>
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<reference>🔗
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<resource>
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<reference>🔗
<reference value="ValueSet/dna-change-type-vs"/>
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<name value="DNA Change Type Value Set"/>
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<resource>
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<reference>🔗
<reference value="ValueSet/encounter-class-vs"/>
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<resource>
<extension
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<reference>🔗
<reference value="ValueSet/family-sex-vs"/>
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<name value="Family Member Sex Value Set"/>
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<exampleBoolean value="false"/>
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<resource>
<extension
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<valueString value="ValueSet"/>
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<reference>🔗
<reference value="ValueSet/family-relationship-vs"/>
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<resource>
<extension
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<valueString value="ValueSet"/>
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<reference>🔗
<reference value="ValueSet/genomic-source-class-vs"/>
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<name value="Genomic Source Class Value Set"/>
<description
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<exampleBoolean value="false"/>
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<resource>
<extension
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<valueString value="ValueSet"/>
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<reference>🔗
<reference value="ValueSet/karyotypic-sex-vs"/>
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<name value="Karyotypic Sex Value Set"/>
<description value="Value set for capturing karyotypic sex."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/level-of-evidence-vs"/>
</reference>
<name value="Level of Evidence Value Set"/>
<description
value="LOINC LA codes describing evidence strength for a variant."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:extension"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/phenotype-modifier"/>
</reference>
<name value="Phenotype Modifier"/>
<description
value="Captures modifiers for the phenotypic feature, such as severity or specific classifications."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/phenotypie-severity-vs"/>
</reference>
<name value="Phenotype Severity Value Set"/>
<description value="Value set for capturing phenotype severity."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:extension"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/phenotype-status"/>
</reference>
<name value="Phenotype Status"/>
<description
value="Captures the status of a phenotypic feature, such as confirmed present or refuted."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/phenotype-status-vs"/>
</reference>
<name value="Phenotype Status Value Set"/>
<description value="Value set for capturing phenotype status."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:extension"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/propositus"/>
</reference>
<name value="Propositus"/>
<description
value="Indicates whether the family member is the propositus."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/propositus-vs"/>
</reference>
<name value="Propositus Value Set"/>
<description
value="Value set for indicating whether the family member is the propositus."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference
value="StructureDefinition/rarelink-condition-undiagnosed-rd-case"/>
</reference>
<name value="RareLink Condition for Undiagnosed RD Case"/>
<description
value="A RareLink-specific Condition profile for documenting undiagnosed rare disease cases based on the IPS Condition profile."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-consent"/>
</reference>
<name value="RareLink Consent"/>
<description
value="A RareLink-specific Consent profile based on the Consent resource."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference
value="StructureDefinition/rarelink-diagnostic-implication"/>
</reference>
<name value="RareLink Diagnostic Implication Observation"/>
<description
value="
A RareLink-specific profile extending the HL7 Genomics Reporting 'diagnostic-implication' profile
for documenting diagnostic significance, evidence levels, and associated phenotypes
(genetic_findings.diagnostic_implication)."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-encounter"/>
</reference>
<name value="RareLink Encounter"/>
<description
value="A RareLink-specific Encounter profile based on the Encounter resource."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-familyhistory"/>
</reference>
<name value="RareLink Family History"/>
<description
value="A RareLink-specific FamilyMemberHistory profile based on the FamilyMemberHistory resource."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-genetic-variant"/>
</reference>
<name value="RareLink Genetic Variant Observation"/>
<description
value="
A RareLink-specific profile for documenting genetic findings
(genetic_findings.variant), based on the HL7 Genomics Reporting variant profile."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-ips-condition"/>
</reference>
<name value="RareLink IPS Condition"/>
<description
value="A RareLink-specific Condition profile based on the IPS Condition profile."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference
value="StructureDefinition/rarelink-ips-measurement-laboratory"/>
</reference>
<name value="RareLink IPS Measurement Laboratory"/>
<description
value="A RareLink-specific profile for laboratory measurements based on the IPS Observation profile."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference
value="StructureDefinition/rarelink-ips-measurement-radiology"/>
</reference>
<name value="RareLink IPS Measurement Radiology"/>
<description
value="A RareLink-specific profile for radiology measurements based on the IPS Observation profile."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-ips-patient"/>
</reference>
<name value="RareLink IPS Patient"/>
<description
value="A RareLink-specific profile for the IPS Patient resource."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-ips-procedure"/>
</reference>
<name value="RareLink IPS Procedure"/>
<description
value="A RareLink-specific profile for the IPS Procedure resource."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference
value="StructureDefinition/rarelink-observation-age-category"/>
</reference>
<name value="RareLink Observation Age Category"/>
<description
value="A RareLink-specific profile for capturing the age category of
a patient as an observation, based on the ERDRI-CDS value set."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference
value="StructureDefinition/rarelink-observation-gestation-at-birth"/>
</reference>
<name value="RareLink Observation Gestation at Birth"/>
<description
value="A RareLink-specific profile for capturing gestation length at birth."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-karyotypic-sex"/>
</reference>
<name value="RareLink Observation Karyotypic Sex"/>
<description
value="A RareLink-specific profile for capturing karyotypic sex information."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference
value="StructureDefinition/rarelink-observation-measurements-others"/>
</reference>
<name value="RareLink Observation Measurements (Others)"/>
<description
value="A RareLink-specific profile for measurements that do not fall under IPS laboratory, radiology, procedures, or vital signs."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/rarelink-phenotypic-feature"/>
</reference>
<name value="RareLink Observation Phenotypic Feature"/>
<description
value="A RareLink-specific profile for capturing phenotypic features."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:resource"/>
</extension>
<reference>🔗
<reference
value="StructureDefinition/rarelink-observation-vital-signs"/>
</reference>
<name value="RareLink Vital Signs Measurements"/>
<description
value="A RareLink-specific profile for vital signs measurements."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:extension"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/recorded-sex-at-birth"/>
</reference>
<name value="Recorded Sex at Birth"/>
<description value="The sex assigned to the patient at birth."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/reference-genome-vs"/>
</reference>
<name value="Reference Genome Value Set"/>
<description
value="LOINC LA codes specifying the reference genome build."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:extension"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/resolution-date"/>
</reference>
<name value="Resolution Date"/>
<description value="The date when the phenotypic feature resolved."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/severity-vs"/>
</reference>
<name value="Severity Value Set"/>
<description value="Value set for severity levels of conditions."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/sex-at-birth-vs"/>
</reference>
<name value="Sex at Birth Value Set"/>
<description
value="Value set for capturing the sex assigned at birth."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/structural-variant-method-vs"/>
</reference>
<name value="Structural Variant Method Value Set"/>
<description
value="LOINC LA codes enumerating methods for detecting structural variants."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/temporal-pattern-vs"/>
</reference>
<name value="Temporal Pattern Value Set"/>
<description
value="Value set for capturing the temporal pattern of phenotypic features."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/undiagnosed-rd-case-vs"/>
</reference>
<name value="Undiagnosed Rare Disease Case Value Set"/>
<description
value="Value set for capturing undiagnosed rare disease cases."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="StructureDefinition:extension"/>
</extension>
<reference>🔗
<reference value="StructureDefinition/vital-status"/>
</reference>
<name value="Vital Status"/>
<description value="Coded representation of a patient's vital status"/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/vital-status-vs"/>
</reference>
<name value="Vital Status Value Set"/>
<description
value="Value set for capturing the vital status of the patient."/>
<exampleBoolean value="false"/>
</resource>
<resource>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/resource-information">
<valueString value="ValueSet"/>
</extension>
<reference>🔗
<reference value="ValueSet/zygosity-vs"/>
</reference>
<name value="Zygosity Value Set"/>
<description
value="LOINC LA codes enumerating various zygosity states."/>
<exampleBoolean value="false"/>
</resource>
<page>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/ig-page-name">
<valueUrl value="toc.html"/>
</extension>
<nameUrl value="toc.html"/>
<title value="Table of Contents"/>
<generation value="html"/>
<page>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/ig-page-name">
<valueUrl value="index.html"/>
</extension>
<nameUrl value="index.html"/>
<title value="Home"/>
<generation value="markdown"/>
</page>
<page>
<extension
url="http://hl7.org/fhir/tools/StructureDefinition/ig-page-name">
<valueUrl value="downloads.html"/>
</extension>
<nameUrl value="downloads.html"/>
<title value="Downloads"/>
<generation value="markdown"/>
</page>
</page>
<parameter>
<code value="path-resource"/>
<value value="input/capabilities"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/examples"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/extensions"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/models"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/operations"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/profiles"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/resources"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/vocabulary"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/maps"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/testing"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="input/history"/>
</parameter>
<parameter>
<code value="path-resource"/>
<value value="fsh-generated/resources"/>
</parameter>
<parameter>
<code value="path-pages"/>
<value value="template/config"/>
</parameter>
<parameter>
<code value="path-pages"/>
<value value="input/images"/>
</parameter>
<parameter>
<code value="path-tx-cache"/>
<value value="input-cache/txcache"/>
</parameter>
</definition>
</ImplementationGuide>