Genomics Reporting Implementation Guide
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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 - JSON Representation

Active as of 2024-07-15

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{
  "resourceType" : "ValueSet",
  "id" : "condition-inheritance-mode-vs",
  "text" : {
    "status" : "generated",
    "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>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs",
  "version" : "3.0.1-SNAPSHOT",
  "name" : "ConditionInheritanceModeVS",
  "title" : "Condition Inheritance Patterns",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-07-15T14:36:15+00:00",
  "publisher" : "HL7 International / Clinical Genomics",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Genomics",
      "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://human-phenotype-ontology.org",
        "concept" : [
          {
            "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 recessive inheritance"
          },
          {
            "code" : "HP:0001423",
            "display" : "X-linked dominant inheritance"
          },
          {
            "code" : "HP:0001426",
            "display" : "Multifactorial inheritance"
          },
          {
            "code" : "HP:0001427",
            "display" : "Mitochondrial inheritance"
          },
          {
            "code" : "HP:0001442",
            "display" : "Typified by somatic mosaicism"
          },
          {
            "code" : "HP:0001450",
            "display" : "Y-linked inheritance"
          },
          {
            "code" : "HP:0001470",
            "display" : "Sex-limited expression"
          },
          {
            "code" : "HP:0003743",
            "display" : "Genetic anticipation"
          },
          {
            "code" : "HP:0003745",
            "display" : "Sporadic"
          },
          {
            "code" : "HP:0010983",
            "display" : "Oligogenic inheritance"
          },
          {
            "code" : "HP:0012274",
            "display" : "Autosomal dominant inheritance with paternal imprinting"
          },
          {
            "code" : "HP:0012275",
            "display" : "Autosomal dominant inheritance with maternal imprinting"
          },
          {
            "code" : "HP:0025352",
            "display" : "Typically de novo"
          },
          {
            "code" : "HP:0032113",
            "display" : "Semidominant inheritance"
          }
        ]
      }
    ]
  }
}