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 
{
"resourceType" : "ValueSet",
"id" : "condition-inheritance-mode-vs",
"text" : {
"status" : "generated",
"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>"
},
"url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs",
"version" : "2.0.0",
"name" : "ConditionInheritanceModeVS",
"title" : "Condition Inheritance Patterns",
"status" : "active",
"date" : "2022-05-09T16:59:16+00:00",
"publisher" : "HL7 Clinical Genomics Working Group",
"contact" : [
{
"name" : "HL7 Clinical Genomics Working Group",
"telecom" : [
{
"system" : "url",
"value" : "http://www.hl7.org/Special/committees/clingenomics"
},
{
"system" : "email",
"value" : "cg@lists.HL7.org"
}
]
}
],
"description" : "Value Set for specific transmission patterns of a condition in a pedigree",
"jurisdiction" : [
{
"coding" : [
{
"system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code" : "001",
"display" : "World"
}
]
}
],
"compose" : {
"include" : [
{
"system" : "http://www.ebi.ac.uk/ols/ontologies/geno",
"concept" : [
{
"code" : "0000143",
"display" : "Codominant inheritance"
},
{
"code" : "0000889",
"display" : "Unknown inheritance"
},
{
"code" : "0000892",
"display" : "Mitochondrial inheritance (primarily or exclusively heteroplasmic)"
},
{
"code" : "0000893",
"display" : "Mitochondrial inheritance (primarily or exclusively homoplasmic)"
}
]
},
{
"system" : "http://hpo.jax.org/app/",
"concept" : [
{
"code" : "0000006",
"display" : "Autosomal dominant inheritance"
},
{
"code" : "0000007",
"display" : "Autosomal recessive inheritance"
},
{
"code" : "0001417",
"display" : "X-linked inheritance"
},
{
"code" : "0001419",
"display" : "X-linked inheritance (recessive)"
},
{
"code" : "0001423",
"display" : "X-linked inheritance (dominant)"
},
{
"code" : "0001426",
"display" : "Multifactorial inheritance"
},
{
"code" : "0001427",
"display" : "Mitochondrial inheritance"
},
{
"code" : "0001428",
"display" : "Somatic mutation"
},
{
"code" : "0001450",
"display" : "Y-linked inheritance"
},
{
"code" : "0001470",
"display" : "Autosomal dominant inheritance (sex-limited)"
},
{
"code" : "0003743",
"display" : "Genetic anticipation"
},
{
"code" : "0003745",
"display" : "Sporadic"
},
{
"code" : "0010983",
"display" : "Oligogenic"
},
{
"code" : "0012274",
"display" : "Autosomal dominant inheritance (with paternal imprinting)"
},
{
"code" : "0012275",
"display" : "Autosomal dominant inheritance (with maternal imprinting)"
},
{
"code" : "0025352",
"display" : "Autosomal dominant inheritance (primarily or exclusively de novo)"
},
{
"code" : "0031362",
"display" : "Autosomal recessive inheritance (sex-limited)"
}
]
},
{
"system" : "http://purl.obolibrary.org/obo/sepio-clingen",
"concept" : [
{
"code" : "97020",
"display" : "Semidominant inheritance"
},
{
"code" : "97021",
"display" : "X-linked inheritance (primarily recessive with milder female expression)"
},
{
"code" : "97022",
"display" : "Autosomal dominant inheritance (with genetic anticipation)"
},
{
"code" : "97023",
"display" : "Autosomal recessive inheritance (with genetic anticipation)"
}
]
}
]
}
}
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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