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"description" : "ERDRI-CDS - Consent to the reuse of data.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/consent-to-reuse-vs"
},
"name" : "Consent to Reuse Data Value Set",
"description" : "Value set for capturing consent to reuse data.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:extension"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/date-of-admission"
},
"name" : "Date of Admission",
"description" : "The date of the patient's admission.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/dna-change-type-vs"
},
"name" : "DNA Change Type Value Set",
"description" : "LOINC LA codes enumerating various DNA change types.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/encounter-class-vs"
},
"name" : "Encounter Class Value Set",
"description" : "Value set for encounter classes, including custom RareLink-specific codes.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/family-sex-vs"
},
"name" : "Family Member Sex Value Set",
"description" : "Value set for capturing the sex of a family member.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/family-relationship-vs"
},
"name" : "Family Relationship Value Set",
"description" : "Value set for capturing family member relationships.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/genomic-source-class-vs"
},
"name" : "Genomic Source Class Value Set",
"description" : "LOINC LA codes enumerating germline, somatic, fetal, etc.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/karyotypic-sex-vs"
},
"name" : "Karyotypic Sex Value Set",
"description" : "Value set for capturing karyotypic sex.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/level-of-evidence-vs"
},
"name" : "Level of Evidence Value Set",
"description" : "LOINC LA codes describing evidence strength for a variant.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:extension"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/phenotype-modifier"
},
"name" : "Phenotype Modifier",
"description" : "Captures modifiers for the phenotypic feature, such as severity or specific classifications.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/phenotypie-severity-vs"
},
"name" : "Phenotype Severity Value Set",
"description" : "Value set for capturing phenotype severity.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:extension"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/phenotype-status"
},
"name" : "Phenotype Status",
"description" : "Captures the status of a phenotypic feature, such as confirmed present or refuted.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/phenotype-status-vs"
},
"name" : "Phenotype Status Value Set",
"description" : "Value set for capturing phenotype status.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:extension"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/propositus"
},
"name" : "Propositus",
"description" : "Indicates whether the family member is the propositus.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/propositus-vs"
},
"name" : "Propositus Value Set",
"description" : "Value set for indicating whether the family member is the propositus.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-condition-undiagnosed-rd-case"
},
"name" : "RareLink Condition for Undiagnosed RD Case",
"description" : "A RareLink-specific Condition profile for documenting undiagnosed rare disease cases based on the IPS Condition profile.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-consent"
},
"name" : "RareLink Consent",
"description" : "A RareLink-specific Consent profile based on the Consent resource.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-diagnostic-implication"
},
"name" : "RareLink Diagnostic Implication Observation",
"description" : "\n A RareLink-specific profile extending the HL7 Genomics Reporting 'diagnostic-implication' profile \n for documenting diagnostic significance, evidence levels, and associated phenotypes \n (genetic_findings.diagnostic_implication).",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-encounter"
},
"name" : "RareLink Encounter",
"description" : "A RareLink-specific Encounter profile based on the Encounter resource.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-familyhistory"
},
"name" : "RareLink Family History",
"description" : "A RareLink-specific FamilyMemberHistory profile based on the FamilyMemberHistory resource.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-genetic-variant"
},
"name" : "RareLink Genetic Variant Observation",
"description" : "\n A RareLink-specific profile for documenting genetic findings \n (genetic_findings.variant), based on the HL7 Genomics Reporting variant profile.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-ips-condition"
},
"name" : "RareLink IPS Condition",
"description" : "A RareLink-specific Condition profile based on the IPS Condition profile.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-ips-measurement-laboratory"
},
"name" : "RareLink IPS Measurement Laboratory",
"description" : "A RareLink-specific profile for laboratory measurements based on the IPS Observation profile.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-ips-measurement-radiology"
},
"name" : "RareLink IPS Measurement Radiology",
"description" : "A RareLink-specific profile for radiology measurements based on the IPS Observation profile.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-ips-patient"
},
"name" : "RareLink IPS Patient",
"description" : "A RareLink-specific profile for the IPS Patient resource.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-ips-procedure"
},
"name" : "RareLink IPS Procedure",
"description" : "A RareLink-specific profile for the IPS Procedure resource.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-observation-age-category"
},
"name" : "RareLink Observation Age Category",
"description" : "A RareLink-specific profile for capturing the age category of\n a patient as an observation, based on the ERDRI-CDS value set.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-observation-gestation-at-birth"
},
"name" : "RareLink Observation Gestation at Birth",
"description" : "A RareLink-specific profile for capturing gestation length at birth.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-karyotypic-sex"
},
"name" : "RareLink Observation Karyotypic Sex",
"description" : "A RareLink-specific profile for capturing karyotypic sex information.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-observation-measurements-others"
},
"name" : "RareLink Observation Measurements (Others)",
"description" : "A RareLink-specific profile for measurements that do not fall under IPS laboratory, radiology, procedures, or vital signs.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-phenotypic-feature"
},
"name" : "RareLink Observation Phenotypic Feature",
"description" : "A RareLink-specific profile for capturing phenotypic features.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:resource"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/rarelink-observation-vital-signs"
},
"name" : "RareLink Vital Signs Measurements",
"description" : "A RareLink-specific profile for vital signs measurements.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:extension"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/recorded-sex-at-birth"
},
"name" : "Recorded Sex at Birth",
"description" : "The sex assigned to the patient at birth.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/reference-genome-vs"
},
"name" : "Reference Genome Value Set",
"description" : "LOINC LA codes specifying the reference genome build.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:extension"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/resolution-date"
},
"name" : "Resolution Date",
"description" : "The date when the phenotypic feature resolved.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/severity-vs"
},
"name" : "Severity Value Set",
"description" : "Value set for severity levels of conditions.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/sex-at-birth-vs"
},
"name" : "Sex at Birth Value Set",
"description" : "Value set for capturing the sex assigned at birth.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/structural-variant-method-vs"
},
"name" : "Structural Variant Method Value Set",
"description" : "LOINC LA codes enumerating methods for detecting structural variants.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/temporal-pattern-vs"
},
"name" : "Temporal Pattern Value Set",
"description" : "Value set for capturing the temporal pattern of phenotypic features.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/undiagnosed-rd-case-vs"
},
"name" : "Undiagnosed Rare Disease Case Value Set",
"description" : "Value set for capturing undiagnosed rare disease cases.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "StructureDefinition:extension"
}
],
"reference" : {
🔗 "reference" : "StructureDefinition/vital-status"
},
"name" : "Vital Status",
"description" : "Coded representation of a patient's vital status",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/vital-status-vs"
},
"name" : "Vital Status Value Set",
"description" : "Value set for capturing the vital status of the patient.",
"exampleBoolean" : false
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString" : "ValueSet"
}
],
"reference" : {
🔗 "reference" : "ValueSet/zygosity-vs"
},
"name" : "Zygosity Value Set",
"description" : "LOINC LA codes enumerating various zygosity states.",
"exampleBoolean" : false
}
],
"page" : {
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/ig-page-name",
"valueUrl" : "toc.html"
}
],
"nameUrl" : "toc.html",
"title" : "Table of Contents",
"generation" : "html",
"page" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/ig-page-name",
"valueUrl" : "index.html"
}
],
"nameUrl" : "index.html",
"title" : "Home",
"generation" : "markdown"
},
{
"extension" : [
{
"url" : "http://hl7.org/fhir/tools/StructureDefinition/ig-page-name",
"valueUrl" : "downloads.html"
}
],
"nameUrl" : "downloads.html",
"title" : "Downloads",
"generation" : "markdown"
}
]
},
"parameter" : [
{
"code" : "path-resource",
"value" : "input/capabilities"
},
{
"code" : "path-resource",
"value" : "input/examples"
},
{
"code" : "path-resource",
"value" : "input/extensions"
},
{
"code" : "path-resource",
"value" : "input/models"
},
{
"code" : "path-resource",
"value" : "input/operations"
},
{
"code" : "path-resource",
"value" : "input/profiles"
},
{
"code" : "path-resource",
"value" : "input/resources"
},
{
"code" : "path-resource",
"value" : "input/vocabulary"
},
{
"code" : "path-resource",
"value" : "input/maps"
},
{
"code" : "path-resource",
"value" : "input/testing"
},
{
"code" : "path-resource",
"value" : "input/history"
},
{
"code" : "path-resource",
"value" : "fsh-generated/resources"
},
{
"code" : "path-pages",
"value" : "template/config"
},
{
"code" : "path-pages",
"value" : "input/images"
},
{
"code" : "path-tx-cache",
"value" : "input-cache/txcache"
}
]
}
}