{ "description": "Value Set for specific transmission patterns of a condition in a pedigree", "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 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": "HP:0032113", "display": "Semidominant inheritance" } ] } ] }, "_filename": "ValueSet-condition-inheritance-mode-vs.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2023-12-18T22:45:59+00:00", "publisher": "HL7 International / Clinical Genomics", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "display": "World" } ] } ], "name": "ConditionInheritanceModeVS", "type": null, "experimental": "false", "resourceType": "ValueSet", "title": "Condition Inheritance Patterns", "package_version": "3.0.0-ballot", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode": "cg" } ], "status": "active", "id": "75aeb1b8-d3ee-40d2-80ed-1c9a3362abee", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs", "version": "3.0.0-ballot", "contact": [ { "name": "HL7 International / Clinical Genomics", "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" }, { "value": "cg@lists.HL7.org", "system": "email" } ] } ] }