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FHIR IG Statistics: ValueSet/condition-inheritance-mode-vs

Packagehl7.fhir.uv.genomics-reporting
TypeValueSet
Idcondition-inheritance-mode-vs
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/ValueSet-condition-inheritance-mode-vs.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameConditionInheritanceModeVS
TitleCondition Inheritance Patterns
Realmuv
Authorityhl7
DescriptionValue Set for specific transmission patterns of a condition in a pedigree

Resources that use this resource

StructureDefinition
diagnostic-implicationDiagnostic Implication
LogicalModelMolGenMII LM MolGen LogicalModel

Resources that this resource uses

CodeSystem
human-phenotype-ontology.orgHuman Phenotype Ontology
human-phenotype-ontology.orgHuman Phenotype Ontology

Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: ValueSet condition-inheritance-mode-vs

  • Include these codes as defined in http://human-phenotype-ontology.org
    CodeDisplay
    HP:0000006Autosomal dominant inheritance
    HP:0000007Autosomal recessive inheritance
    HP:0001417X-linked inheritance
    HP:0001419X-linked recessive inheritance
    HP:0001423X-linked dominant inheritance
    HP:0001426Multifactorial inheritance
    HP:0001427Mitochondrial inheritance
    HP:0001442Typified by somatic mosaicism
    HP:0001450Y-linked inheritance
    HP:0001470Sex-limited expression
    HP:0003743Genetic anticipation
    HP:0003745Sporadic
    HP:0010983Oligogenic inheritance
    HP:0012274Autosomal dominant inheritance with paternal imprinting
    HP:0012275Autosomal dominant inheritance with maternal imprinting
    HP:0025352Typically de novo
    HP:0032113Semidominant inheritance

Source

{
  "resourceType": "ValueSet",
  "id": "condition-inheritance-mode-vs",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "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-ballot",
  "name": "ConditionInheritanceModeVS",
  "title": "Condition Inheritance Patterns",
  "status": "active",
  "experimental": false,
  "date": "2025-06-24T17:31:37+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"
          }
        ]
      }
    ]
  }
}