Genomics Reporting Implementation Guide
1.1.0 - Ballot
Genomics Reporting Implementation Guide
1.1.0 - Ballot
This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. 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:CodeSystem;
fhir:nodeRole fhir:treeRoot;
fhir:Resource.id [ fhir:value "ConditionInheritanceMode"];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/ConditionInheritanceMode defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">GENO:0000143<a name=\"ConditionInheritanceMode-GENO.580000143\"> </a></td><td>Codominant inheritance</td></tr><tr><td style=\"white-space:nowrap\">GENO:0000889<a name=\"ConditionInheritanceMode-GENO.580000889\"> </a></td><td>Unknown inheritance</td></tr><tr><td style=\"white-space:nowrap\">GENO:0000892<a name=\"ConditionInheritanceMode-GENO.580000892\"> </a></td><td>Mitochondrial inheritance (primarily or exclusively heteroplasmic)</td></tr><tr><td style=\"white-space:nowrap\">GENO:0000893<a name=\"ConditionInheritanceMode-GENO.580000893\"> </a></td><td>Mitochondrial inheritance (primarily or exclusively homoplasmic)</td></tr><tr><td style=\"white-space:nowrap\">HP:0000006<a name=\"ConditionInheritanceMode-HP.580000006\"> </a></td><td>Autosomal dominant inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0000007<a name=\"ConditionInheritanceMode-HP.580000007\"> </a></td><td>Autosomal recessive inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001417<a name=\"ConditionInheritanceMode-HP.580001417\"> </a></td><td>X-linked inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001419<a name=\"ConditionInheritanceMode-HP.580001419\"> </a></td><td>X-linked inheritance (recessive)</td></tr><tr><td style=\"white-space:nowrap\">HP:0001423<a name=\"ConditionInheritanceMode-HP.580001423\"> </a></td><td>X-linked inheritance (dominant)</td></tr><tr><td style=\"white-space:nowrap\">HP:0001426<a name=\"ConditionInheritanceMode-HP.580001426\"> </a></td><td>Multifactorial inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001427<a name=\"ConditionInheritanceMode-HP.580001427\"> </a></td><td>Mitochondrial inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001428<a name=\"ConditionInheritanceMode-HP.580001428\"> </a></td><td>Somatic mutation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001450<a name=\"ConditionInheritanceMode-HP.580001450\"> </a></td><td>Y-linked inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001470<a name=\"ConditionInheritanceMode-HP.580001470\"> </a></td><td>Autosomal dominant inheritance (sex-limited)</td></tr><tr><td style=\"white-space:nowrap\">HP:0003743<a name=\"ConditionInheritanceMode-HP.580003743\"> </a></td><td>Genetic anticipation</td></tr><tr><td style=\"white-space:nowrap\">HP:0003745<a name=\"ConditionInheritanceMode-HP.580003745\"> </a></td><td>Sporadic</td></tr><tr><td style=\"white-space:nowrap\">HP:0010983<a name=\"ConditionInheritanceMode-HP.580010983\"> </a></td><td>Oligogenic</td></tr><tr><td style=\"white-space:nowrap\">HP:0012274<a name=\"ConditionInheritanceMode-HP.580012274\"> </a></td><td>Autosomal dominant inheritance (with paternal imprinting)</td></tr><tr><td style=\"white-space:nowrap\">HP:0012275<a name=\"ConditionInheritanceMode-HP.580012275\"> </a></td><td>Autosomal dominant inheritance (with maternal imprinting)</td></tr><tr><td style=\"white-space:nowrap\">HP:0025352<a name=\"ConditionInheritanceMode-HP.580025352\"> </a></td><td>Autosomal dominant inheritance (primarily or exclusively de novo)</td></tr><tr><td style=\"white-space:nowrap\">HP:0031362<a name=\"ConditionInheritanceMode-HP.580031362\"> </a></td><td>Autosomal recessive inheritance (sex-limited)</td></tr><tr><td style=\"white-space:nowrap\">SEPIO-CG:97020<a name=\"ConditionInheritanceMode-SEPIO-CG.5897020\"> </a></td><td>Semidominant inheritance</td></tr><tr><td style=\"white-space:nowrap\">SEPIO-CG:97021<a name=\"ConditionInheritanceMode-SEPIO-CG.5897021\"> </a></td><td>X-linked inheritance (primarily recessive with milder female expression)</td></tr><tr><td style=\"white-space:nowrap\">SEPIO-CG:97022<a name=\"ConditionInheritanceMode-SEPIO-CG.5897022\"> </a></td><td>Autosomal dominant inheritance (with genetic anticipation)</td></tr><tr><td style=\"white-space:nowrap\">SEPIO-CG:97023<a name=\"ConditionInheritanceMode-SEPIO-CG.5897023\"> </a></td><td>Autosomal recessive inheritance (with genetic anticipation)</td></tr></table></div>"
];
fhir:CodeSystem.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/ConditionInheritanceMode"];
fhir:CodeSystem.version [ fhir:value "1.1.0"];
fhir:CodeSystem.name [ fhir:value "ConditionInheritanceMode"];
fhir:CodeSystem.title [ fhir:value "Condition Inheritance Pattern"];
fhir:CodeSystem.status [ fhir:value "active"];
fhir:CodeSystem.date [ fhir:value "2021-04-13T19:13:37+00:00"^^xsd:dateTime];
fhir:CodeSystem.publisher [ fhir:value "HL7 International Clinical Genomics Work Group"];
fhir:CodeSystem.contact [
fhir:index 0;
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:CodeSystem.description [ fhir:value "A set of terms that describe the transmission pattern of a condition in a pedigree."];
fhir:CodeSystem.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:CodeSystem.content [ fhir:value "complete"];
fhir:CodeSystem.count [ fhir:value "25"^^xsd:nonNegativeInteger];
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "GENO:0000143" ];
fhir:CodeSystem.concept.display [ fhir:value "Codominant inheritance" ]
], [
fhir:index 1;
fhir:CodeSystem.concept.code [ fhir:value "GENO:0000889" ];
fhir:CodeSystem.concept.display [ fhir:value "Unknown inheritance" ]
], [
fhir:index 2;
fhir:CodeSystem.concept.code [ fhir:value "GENO:0000892" ];
fhir:CodeSystem.concept.display [ fhir:value "Mitochondrial inheritance (primarily or exclusively heteroplasmic)" ]
], [
fhir:index 3;
fhir:CodeSystem.concept.code [ fhir:value "GENO:0000893" ];
fhir:CodeSystem.concept.display [ fhir:value "Mitochondrial inheritance (primarily or exclusively homoplasmic)" ]
], [
fhir:index 4;
fhir:CodeSystem.concept.code [ fhir:value "HP:0000006" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal dominant inheritance" ]
], [
fhir:index 5;
fhir:CodeSystem.concept.code [ fhir:value "HP:0000007" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal recessive inheritance" ]
], [
fhir:index 6;
fhir:CodeSystem.concept.code [ fhir:value "HP:0001417" ];
fhir:CodeSystem.concept.display [ fhir:value "X-linked inheritance" ]
], [
fhir:index 7;
fhir:CodeSystem.concept.code [ fhir:value "HP:0001419" ];
fhir:CodeSystem.concept.display [ fhir:value "X-linked inheritance (recessive)" ]
], [
fhir:index 8;
fhir:CodeSystem.concept.code [ fhir:value "HP:0001423" ];
fhir:CodeSystem.concept.display [ fhir:value "X-linked inheritance (dominant)" ]
], [
fhir:index 9;
fhir:CodeSystem.concept.code [ fhir:value "HP:0001426" ];
fhir:CodeSystem.concept.display [ fhir:value "Multifactorial inheritance" ]
], [
fhir:index 10;
fhir:CodeSystem.concept.code [ fhir:value "HP:0001427" ];
fhir:CodeSystem.concept.display [ fhir:value "Mitochondrial inheritance" ]
], [
fhir:index 11;
fhir:CodeSystem.concept.code [ fhir:value "HP:0001428" ];
fhir:CodeSystem.concept.display [ fhir:value "Somatic mutation" ]
], [
fhir:index 12;
fhir:CodeSystem.concept.code [ fhir:value "HP:0001450" ];
fhir:CodeSystem.concept.display [ fhir:value "Y-linked inheritance" ]
], [
fhir:index 13;
fhir:CodeSystem.concept.code [ fhir:value "HP:0001470" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal dominant inheritance (sex-limited)" ]
], [
fhir:index 14;
fhir:CodeSystem.concept.code [ fhir:value "HP:0003743" ];
fhir:CodeSystem.concept.display [ fhir:value "Genetic anticipation" ]
], [
fhir:index 15;
fhir:CodeSystem.concept.code [ fhir:value "HP:0003745" ];
fhir:CodeSystem.concept.display [ fhir:value "Sporadic" ]
], [
fhir:index 16;
fhir:CodeSystem.concept.code [ fhir:value "HP:0010983" ];
fhir:CodeSystem.concept.display [ fhir:value "Oligogenic" ]
], [
fhir:index 17;
fhir:CodeSystem.concept.code [ fhir:value "HP:0012274" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal dominant inheritance (with paternal imprinting)" ]
], [
fhir:index 18;
fhir:CodeSystem.concept.code [ fhir:value "HP:0012275" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal dominant inheritance (with maternal imprinting)" ]
], [
fhir:index 19;
fhir:CodeSystem.concept.code [ fhir:value "HP:0025352" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal dominant inheritance (primarily or exclusively de novo)" ]
], [
fhir:index 20;
fhir:CodeSystem.concept.code [ fhir:value "HP:0031362" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal recessive inheritance (sex-limited)" ]
], [
fhir:index 21;
fhir:CodeSystem.concept.code [ fhir:value "SEPIO-CG:97020" ];
fhir:CodeSystem.concept.display [ fhir:value "Semidominant inheritance" ]
], [
fhir:index 22;
fhir:CodeSystem.concept.code [ fhir:value "SEPIO-CG:97021" ];
fhir:CodeSystem.concept.display [ fhir:value "X-linked inheritance (primarily recessive with milder female expression)" ]
], [
fhir:index 23;
fhir:CodeSystem.concept.code [ fhir:value "SEPIO-CG:97022" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal dominant inheritance (with genetic anticipation)" ]
], [
fhir:index 24;
fhir:CodeSystem.concept.code [ fhir:value "SEPIO-CG:97023" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal recessive inheritance (with genetic anticipation)" ]
].
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.
IG © 2019+ HL7 International Clinical Genomics Work Group. Package hl7.fhir.uv.genomics-reporting#1.1.0 based on FHIR 4.0.1. Generated 2021-04-13
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