@prefix fhir: . @prefix owl: . @prefix rdf: . @prefix rdfs: . @prefix xsd: . # - resource ------------------------------------------------------------------- a fhir:ValueSet ; fhir:nodeRole fhir:treeRoot ; fhir:id [ fhir:v "condition-inheritance-mode-vs"] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "

Generated Narrative: ValueSet condition-inheritance-mode-vs

  • Include these codes as defined in http://human-phenotype-ontology.org version Not Stated (use latest from terminology server)
    CodeDisplay
    HP:0000006Autosomal dominant inheritance
    HP:0000007Autosomal recessive inheritance
    HP:0001417X-linked inheritance
    HP:0001419X-linked recessive inheritance
    HP:0001423X-linked dominant inheritance
    HP:0001426Multifactorial inheritance
    HP:0001427Mitochondrial inheritance
    HP:0001442Typified by somatic mosaicism
    HP:0001450Y-linked inheritance
    HP:0001470Sex-limited expression
    HP:0003743Genetic anticipation
    HP:0003745Sporadic
    HP:0010983Oligogenic inheritance
    HP:0012274Autosomal dominant inheritance with paternal imprinting
    HP:0012275Autosomal dominant inheritance with maternal imprinting
    HP:0025352Typically de novo
    HP:0032113Semidominant inheritance
"^^rdf:XMLLiteral ] ] ; # fhir:extension ( [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ; fhir:l ] ; fhir:value [ a fhir:Code ; fhir:v "cg" ] ] [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ; fhir:l ] ; fhir:value [ a fhir:Integer ; fhir:v 2 ; fhir:extension ( [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ; fhir:l ] ; fhir:value [ a fhir:Canonical ; fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"^^xsd:anyURI ; fhir:l ] ] ) ] ] [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ; fhir:l ] ; fhir:value [ a fhir:Code ; fhir:v "trial-use" ; fhir:extension ( [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ; fhir:l ] ; fhir:value [ a fhir:Canonical ; fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"^^xsd:anyURI ; fhir:l ] ] ) ] ] ) ; # fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"^^xsd:anyURI ; fhir:l ] ; # fhir:version [ fhir:v "4.0.0-cibuild"] ; # fhir:name [ fhir:v "ConditionInheritanceModeVS"] ; # fhir:title [ fhir:v "Condition Inheritance Patterns"] ; # fhir:status [ fhir:v "active"] ; # fhir:experimental [ fhir:v false] ; # fhir:date [ fhir:v "2026-01-30T18:21:39+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 "Value Set for specific transmission patterns of a condition in a pedigree"] ; # fhir:jurisdiction ( [ fhir:coding ( [ fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "001" ] ; fhir:display [ fhir:v "World" ] ] ) ] ) ; # fhir:compose [ fhir:include ( [ fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ; fhir:l ] ; fhir:concept ( [ fhir:code [ fhir:v "HP:0000006" ] ; fhir:display [ fhir:v "Autosomal dominant inheritance" ] ] [ fhir:code [ fhir:v "HP:0000007" ] ; fhir:display [ fhir:v "Autosomal recessive inheritance" ] ] [ fhir:code [ fhir:v "HP:0001417" ] ; fhir:display [ fhir:v "X-linked inheritance" ] ] [ fhir:code [ fhir:v "HP:0001419" ] ; fhir:display [ fhir:v "X-linked recessive inheritance" ] ] [ fhir:code [ fhir:v "HP:0001423" ] ; fhir:display [ fhir:v "X-linked dominant inheritance" ] ] [ fhir:code [ fhir:v "HP:0001426" ] ; fhir:display [ fhir:v "Multifactorial inheritance" ] ] [ fhir:code [ fhir:v "HP:0001427" ] ; fhir:display [ fhir:v "Mitochondrial inheritance" ] ] [ fhir:code [ fhir:v "HP:0001442" ] ; fhir:display [ fhir:v "Typified by somatic mosaicism" ] ] [ fhir:code [ fhir:v "HP:0001450" ] ; fhir:display [ fhir:v "Y-linked inheritance" ] ] [ fhir:code [ fhir:v "HP:0001470" ] ; fhir:display [ fhir:v "Sex-limited expression" ] ] [ fhir:code [ fhir:v "HP:0003743" ] ; fhir:display [ fhir:v "Genetic anticipation" ] ] [ fhir:code [ fhir:v "HP:0003745" ] ; fhir:display [ fhir:v "Sporadic" ] ] [ fhir:code [ fhir:v "HP:0010983" ] ; fhir:display [ fhir:v "Oligogenic inheritance" ] ] [ fhir:code [ fhir:v "HP:0012274" ] ; fhir:display [ fhir:v "Autosomal dominant inheritance with paternal imprinting" ] ] [ fhir:code [ fhir:v "HP:0012275" ] ; fhir:display [ fhir:v "Autosomal dominant inheritance with maternal imprinting" ] ] [ fhir:code [ fhir:v "HP:0025352" ] ; fhir:display [ fhir:v "Typically de novo" ] ] [ fhir:code [ fhir:v "HP:0032113" ] ; fhir:display [ fhir:v "Semidominant inheritance" ] ] ) ] ) ] . # # -------------------------------------------------------------------------------------