{ "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 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" } ] } ] }, "_filename": "ValueSet-condition-inheritance-mode-vs.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2024-12-12T20:43:36+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", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode": "cg" } ], "status": "active", "id": "2c2a3a27-5f8e-4048-a529-492b7a8305a0", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs", "version": "3.0.0", "contact": [ { "name": "HL7 International / Clinical Genomics", "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" }, { "value": "cg@lists.HL7.org", "system": "email" } ] } ] }