Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
: Condition Inheritance Patterns - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
<http://hl7.org/fhir/ValueSet/condition-inheritance-mode-vs> a fhir:ValueSet ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "condition-inheritance-mode-vs"] ;
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ] ;
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet condition-inheritance-mode-vs</b></p><a name=\"condition-inheritance-mode-vs\"> </a><a name=\"hccondition-inheritance-mode-vs\"> </a><ul><li>Include these codes as defined in <a href=\"https://tx-nordics.fhir.org/fhir/r4\"><code>http://human-phenotype-ontology.org</code></a><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>HP:0000006</td><td>Autosomal dominant inheritance</td></tr><tr><td>HP:0000007</td><td>Autosomal recessive inheritance</td></tr><tr><td>HP:0001417</td><td>X-linked inheritance</td></tr><tr><td>HP:0001419</td><td>X-linked recessive inheritance</td></tr><tr><td>HP:0001423</td><td>X-linked dominant inheritance</td></tr><tr><td>HP:0001426</td><td>Multifactorial inheritance</td></tr><tr><td>HP:0001427</td><td>Mitochondrial inheritance</td></tr><tr><td>HP:0001442</td><td>Typified by somatic mosaicism</td></tr><tr><td>HP:0001450</td><td>Y-linked inheritance</td></tr><tr><td>HP:0001470</td><td>Sex-limited expression</td></tr><tr><td>HP:0003743</td><td>Genetic anticipation</td></tr><tr><td>HP:0003745</td><td>Sporadic</td></tr><tr><td>HP:0010983</td><td>Oligogenic inheritance</td></tr><tr><td>HP:0012274</td><td>Autosomal dominant inheritance with paternal imprinting</td></tr><tr><td>HP:0012275</td><td>Autosomal dominant inheritance with maternal imprinting</td></tr><tr><td>HP:0025352</td><td>Typically de novo</td></tr><tr><td>HP:0032113</td><td>Semidominant inheritance</td></tr></table></li></ul></div>"
] ;
fhir:DomainResource.extension [
fhir:index 0 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ;
fhir:Extension.valueCode [ fhir:value "cg" ]
], [
fhir:index 1 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ] ;
fhir:Extension.valueInteger [
fhir:value "2"^^xsd:integer ;
fhir:Element.extension [
fhir:index 0 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
fhir:Extension.valueCanonical [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
]
]
]
], [
fhir:index 2 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ;
fhir:Extension.valueCode [
fhir:value "trial-use" ;
fhir:Element.extension [
fhir:index 0 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
fhir:Extension.valueCanonical [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
]
]
]
] ;
fhir:ValueSet.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"] ;
fhir:ValueSet.version [ fhir:value "4.0.0-cibuild"] ;
fhir:ValueSet.name [ fhir:value "ConditionInheritanceModeVS"] ;
fhir:ValueSet.title [ fhir:value "Condition Inheritance Patterns"] ;
fhir:ValueSet.status [ fhir:value "active"] ;
fhir:ValueSet.experimental [ fhir:value "false"^^xsd:boolean] ;
fhir:ValueSet.date [ fhir:value "2026-09-21T13:24:35+00:00"^^xsd:dateTime] ;
fhir:ValueSet.publisher [ fhir:value "HL7 International / Clinical Genomics"] ;
fhir:ValueSet.contact [
fhir:index 0 ;
fhir:ContactDetail.name [ fhir:value "HL7 International / Clinical Genomics" ] ;
fhir:ContactDetail.telecom [
fhir:index 0 ;
fhir:ContactPoint.system [ fhir:value "url" ] ;
fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics" ]
], [
fhir:index 1 ;
fhir:ContactPoint.system [ fhir:value "email" ] ;
fhir:ContactPoint.value [ fhir:value "cg@lists.HL7.org" ]
]
] ;
fhir:ValueSet.description [ fhir:value "Value Set for specific transmission patterns of a condition in a pedigree"] ;
fhir:ValueSet.jurisdiction [
fhir:index 0 ;
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ;
fhir:Coding.code [ fhir:value "001" ] ;
fhir:Coding.display [ fhir:value "World" ]
]
] ;
fhir:ValueSet.compose [
fhir:ValueSet.compose.include [
fhir:index 0 ;
fhir:ValueSet.compose.include.system [ fhir:value "http://human-phenotype-ontology.org" ] ;
fhir:ValueSet.compose.include.concept [
fhir:index 0 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0000006" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal dominant inheritance" ]
], [
fhir:index 1 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0000007" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal recessive inheritance" ]
], [
fhir:index 2 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0001417" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked inheritance" ]
], [
fhir:index 3 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0001419" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked recessive inheritance" ]
], [
fhir:index 4 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0001423" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked dominant inheritance" ]
], [
fhir:index 5 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0001426" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Multifactorial inheritance" ]
], [
fhir:index 6 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0001427" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mitochondrial inheritance" ]
], [
fhir:index 7 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0001442" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Typified by somatic mosaicism" ]
], [
fhir:index 8 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0001450" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Y-linked inheritance" ]
], [
fhir:index 9 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0001470" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Sex-limited expression" ]
], [
fhir:index 10 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0003743" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Genetic anticipation" ]
], [
fhir:index 11 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0003745" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Sporadic" ]
], [
fhir:index 12 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0010983" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Oligogenic inheritance" ]
], [
fhir:index 13 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0012274" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal dominant inheritance with paternal imprinting" ]
], [
fhir:index 14 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0012275" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal dominant inheritance with maternal imprinting" ]
], [
fhir:index 15 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0025352" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Typically de novo" ]
], [
fhir:index 16 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "HP:0032113" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Semidominant inheritance" ]
]
]
] .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/ValueSet/condition-inheritance-mode-vs.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/ValueSet/condition-inheritance-mode-vs.ttl> .
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