Genomics Reporting Implementation Guide
2.0.0 - trial-use
Genomics Reporting Implementation Guide
2.0.0 - trial-use
This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions 
@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: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>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <code>http://www.ebi.ac.uk/ols/ontologies/geno</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>0000143</td><td>Codominant inheritance</td></tr><tr><td>0000889</td><td>Unknown inheritance</td></tr><tr><td>0000892</td><td>Mitochondrial inheritance (primarily or exclusively heteroplasmic)</td></tr><tr><td>0000893</td><td>Mitochondrial inheritance (primarily or exclusively homoplasmic)</td></tr></table></li><li>Include these codes as defined in <code>http://hpo.jax.org/app/</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>0000006</td><td>Autosomal dominant inheritance</td></tr><tr><td>0000007</td><td>Autosomal recessive inheritance</td></tr><tr><td>0001417</td><td>X-linked inheritance</td></tr><tr><td>0001419</td><td>X-linked inheritance (recessive)</td></tr><tr><td>0001423</td><td>X-linked inheritance (dominant)</td></tr><tr><td>0001426</td><td>Multifactorial inheritance</td></tr><tr><td>0001427</td><td>Mitochondrial inheritance</td></tr><tr><td>0001428</td><td>Somatic mutation</td></tr><tr><td>0001450</td><td>Y-linked inheritance</td></tr><tr><td>0001470</td><td>Autosomal dominant inheritance (sex-limited)</td></tr><tr><td>0003743</td><td>Genetic anticipation</td></tr><tr><td>0003745</td><td>Sporadic</td></tr><tr><td>0010983</td><td>Oligogenic</td></tr><tr><td>0012274</td><td>Autosomal dominant inheritance (with paternal imprinting)</td></tr><tr><td>0012275</td><td>Autosomal dominant inheritance (with maternal imprinting)</td></tr><tr><td>0025352</td><td>Autosomal dominant inheritance (primarily or exclusively de novo)</td></tr><tr><td>0031362</td><td>Autosomal recessive inheritance (sex-limited)</td></tr></table></li><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/sepio-clingen</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>97020</td><td>Semidominant inheritance</td></tr><tr><td>97021</td><td>X-linked inheritance (primarily recessive with milder female expression)</td></tr><tr><td>97022</td><td>Autosomal dominant inheritance (with genetic anticipation)</td></tr><tr><td>97023</td><td>Autosomal recessive inheritance (with genetic anticipation)</td></tr></table></li></ul></div>"
];
fhir:ValueSet.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"];
fhir:ValueSet.version [ fhir:value "2.0.0"];
fhir:ValueSet.name [ fhir:value "ConditionInheritanceModeVS"];
fhir:ValueSet.title [ fhir:value "Condition Inheritance Patterns"];
fhir:ValueSet.status [ fhir:value "active"];
fhir:ValueSet.date [ fhir:value "2022-05-09T16:59:16+00:00"^^xsd:dateTime];
fhir:ValueSet.publisher [ fhir:value "HL7 Clinical Genomics Working Group"];
fhir:ValueSet.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "HL7 Clinical Genomics Working Group" ];
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://www.ebi.ac.uk/ols/ontologies/geno" ];
fhir:ValueSet.compose.include.concept [
fhir:index 0;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0000143" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Codominant inheritance" ] ], [
fhir:index 1;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0000889" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Unknown inheritance" ] ], [
fhir:index 2;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0000892" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mitochondrial inheritance (primarily or exclusively heteroplasmic)" ] ], [
fhir:index 3;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0000893" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mitochondrial inheritance (primarily or exclusively homoplasmic)" ] ] ], [
fhir:index 1;
fhir:ValueSet.compose.include.system [ fhir:value "http://hpo.jax.org/app/" ];
fhir:ValueSet.compose.include.concept [
fhir:index 0;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0000006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal dominant inheritance" ] ], [
fhir:index 1;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0000007" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal recessive inheritance" ] ], [
fhir:index 2;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0001417" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked inheritance" ] ], [
fhir:index 3;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0001419" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked inheritance (recessive)" ] ], [
fhir:index 4;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0001423" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked inheritance (dominant)" ] ], [
fhir:index 5;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0001426" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Multifactorial inheritance" ] ], [
fhir:index 6;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0001427" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mitochondrial inheritance" ] ], [
fhir:index 7;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0001428" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Somatic mutation" ] ], [
fhir:index 8;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0001450" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Y-linked inheritance" ] ], [
fhir:index 9;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0001470" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal dominant inheritance (sex-limited)" ] ], [
fhir:index 10;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0003743" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Genetic anticipation" ] ], [
fhir:index 11;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0003745" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Sporadic" ] ], [
fhir:index 12;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0010983" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Oligogenic" ] ], [
fhir:index 13;
fhir:ValueSet.compose.include.concept.code [ fhir:value "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 "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 "0025352" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal dominant inheritance (primarily or exclusively de novo)" ] ], [
fhir:index 16;
fhir:ValueSet.compose.include.concept.code [ fhir:value "0031362" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal recessive inheritance (sex-limited)" ] ] ], [
fhir:index 2;
fhir:ValueSet.compose.include.system [ fhir:value "http://purl.obolibrary.org/obo/sepio-clingen" ];
fhir:ValueSet.compose.include.concept [
fhir:index 0;
fhir:ValueSet.compose.include.concept.code [ fhir:value "97020" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Semidominant inheritance" ] ], [
fhir:index 1;
fhir:ValueSet.compose.include.concept.code [ fhir:value "97021" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "X-linked inheritance (primarily recessive with milder female expression)" ] ], [
fhir:index 2;
fhir:ValueSet.compose.include.concept.code [ fhir:value "97022" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal dominant inheritance (with genetic anticipation)" ] ], [
fhir:index 3;
fhir:ValueSet.compose.include.concept.code [ fhir:value "97023" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Autosomal recessive inheritance (with genetic anticipation)" ] ] ]
].
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.
IG © 2022+ HL7 Clinical Genomics Working Group. Package hl7.fhir.uv.genomics-reporting#2.0.0 based on FHIR 4.0.1. Generated 2022-05-09
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