Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

Page standards status: Trial-use | Maturity Level: 2

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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><ul><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/6.5.0/CodeSystem-HPO.html\"><code>http://human-phenotype-ontology.org</code></a><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><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/StructureDefinition/structuredefinition-fmm",
          "valueInteger" : 2,
          "_valueInteger" : {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
                "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
              }
            ]
          }
        },
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
          "valueCode" : "trial-use",
          "_valueCode" : {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
                "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
              }
            ]
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs",
      "version" : "4.0.0-cibuild",
      "name" : "ConditionInheritanceModeVS",
      "title" : "Condition Inheritance Patterns",
      "status" : "active",
      "experimental" : false,
      "date" : "2025-11-08T00:09:50+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"
              }
            ]
          }
        ]
      }
    }