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 
{
"resourceType" : "CodeSystem",
"id" : "ConditionInheritanceMode",
"text" : {
"status" : "generated",
"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>"
},
"url" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/ConditionInheritanceMode",
"version" : "1.1.0",
"name" : "ConditionInheritanceMode",
"title" : "Condition Inheritance Pattern",
"status" : "active",
"date" : "2021-04-13T19:13:37+00:00",
"publisher" : "HL7 International Clinical Genomics Work Group",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "http://www.hl7.org/Special/committees/clingenomics"
}
]
}
],
"description" : "A set of terms that describe the transmission pattern of a condition in a pedigree.",
"jurisdiction" : [
{
"coding" : [
{
"system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code" : "001"
}
]
}
],
"content" : "complete",
"count" : 25,
"concept" : [
{
"code" : "GENO:0000143",
"display" : "Codominant inheritance"
},
{
"code" : "GENO:0000889",
"display" : "Unknown inheritance"
},
{
"code" : "GENO:0000892",
"display" : "Mitochondrial inheritance (primarily or exclusively heteroplasmic)"
},
{
"code" : "GENO:0000893",
"display" : "Mitochondrial inheritance (primarily or exclusively homoplasmic)"
},
{
"code" : "HP:0000006",
"display" : "Autosomal dominant inheritance"
},
{
"code" : "HP:0000007",
"display" : "Autosomal recessive inheritance"
},
{
"code" : "HP:0001417",
"display" : "X-linked inheritance"
},
{
"code" : "HP:0001419",
"display" : "X-linked inheritance (recessive)"
},
{
"code" : "HP:0001423",
"display" : "X-linked inheritance (dominant)"
},
{
"code" : "HP:0001426",
"display" : "Multifactorial inheritance"
},
{
"code" : "HP:0001427",
"display" : "Mitochondrial inheritance"
},
{
"code" : "HP:0001428",
"display" : "Somatic mutation"
},
{
"code" : "HP:0001450",
"display" : "Y-linked inheritance"
},
{
"code" : "HP:0001470",
"display" : "Autosomal dominant inheritance (sex-limited)"
},
{
"code" : "HP:0003743",
"display" : "Genetic anticipation"
},
{
"code" : "HP:0003745",
"display" : "Sporadic"
},
{
"code" : "HP:0010983",
"display" : "Oligogenic"
},
{
"code" : "HP:0012274",
"display" : "Autosomal dominant inheritance (with paternal imprinting)"
},
{
"code" : "HP:0012275",
"display" : "Autosomal dominant inheritance (with maternal imprinting)"
},
{
"code" : "HP:0025352",
"display" : "Autosomal dominant inheritance (primarily or exclusively de novo)"
},
{
"code" : "HP:0031362",
"display" : "Autosomal recessive inheritance (sex-limited)"
},
{
"code" : "SEPIO-CG:97020",
"display" : "Semidominant inheritance"
},
{
"code" : "SEPIO-CG:97021",
"display" : "X-linked inheritance (primarily recessive with milder female expression)"
},
{
"code" : "SEPIO-CG:97022",
"display" : "Autosomal dominant inheritance (with genetic anticipation)"
},
{
"code" : "SEPIO-CG:97023",
"display" : "Autosomal recessive inheritance (with genetic anticipation)"
}
]
}
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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