Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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

Active as of 2024-07-15

Raw ttl | Download


@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 -------------------------------------------------------------------

 a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "condition-inheritance-mode-vs"] ; # 
  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: ValueSet condition-inheritance-mode-vs</b></p><a name=\"condition-inheritance-mode-vs\"> </a><a name=\"hccondition-inheritance-mode-vs\"> </a><a name=\"condition-inheritance-mode-vs-en-US\"> </a><ul><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\"><code>http://human-phenotype-ontology.org</code></a><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:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cg" ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "3.0.1-SNAPSHOT"] ; # 
  fhir:name [ fhir:v "ConditionInheritanceModeVS"] ; # 
  fhir:title [ fhir:v "Condition Inheritance Patterns"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:date [ fhir:v "2024-07-15T14:36:15+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: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: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" ]       ] )     ] )
  ] . #