{ "description": "Value Set for specific transmission patterns of a condition in a pedigree", "compose": { "include": [ { "system": "http://www.ebi.ac.uk/ols/ontologies/geno", "concept": [ { "code": "0000143", "display": "Codominant inheritance" }, { "code": "0000889", "display": "Unknown inheritance" }, { "code": "0000892", "display": "Mitochondrial inheritance (primarily or exclusively heteroplasmic)" }, { "code": "0000893", "display": "Mitochondrial inheritance (primarily or exclusively homoplasmic)" } ] }, { "system": "http://hpo.jax.org/app/", "concept": [ { "code": "0000006", "display": "Autosomal dominant inheritance" }, { "code": "0000007", "display": "Autosomal recessive inheritance" }, { "code": "0001417", "display": "X-linked inheritance" }, { "code": "0001419", "display": "X-linked inheritance (recessive)" }, { "code": "0001423", "display": "X-linked inheritance (dominant)" }, { "code": "0001426", "display": "Multifactorial inheritance" }, { "code": "0001427", "display": "Mitochondrial inheritance" }, { "code": "0001428", "display": "Somatic mutation" }, { "code": "0001450", "display": "Y-linked inheritance" }, { "code": "0001470", "display": "Autosomal dominant inheritance (sex-limited)" }, { "code": "0003743", "display": "Genetic anticipation" }, { "code": "0003745", "display": "Sporadic" }, { "code": "0010983", "display": "Oligogenic" }, { "code": "0012274", "display": "Autosomal dominant inheritance (with paternal imprinting)" }, { "code": "0012275", "display": "Autosomal dominant inheritance (with maternal imprinting)" }, { "code": "0025352", "display": "Autosomal dominant inheritance (primarily or exclusively de novo)" }, { "code": "0031362", "display": "Autosomal recessive inheritance (sex-limited)" } ] }, { "system": "http://purl.obolibrary.org/obo/sepio-clingen", "concept": [ { "code": "97020", "display": "Semidominant inheritance" }, { "code": "97021", "display": "X-linked inheritance (primarily recessive with milder female expression)" }, { "code": "97022", "display": "Autosomal dominant inheritance (with genetic anticipation)" }, { "code": "97023", "display": "Autosomal recessive inheritance (with genetic anticipation)" } ] } ] }, "_filename": "ValueSet-condition-inheritance-mode-vs.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2022-05-09T16:53:07+00:00", "publisher": "HL7 Clinical Genomics Working Group", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "display": "World" } ] } ], "name": "ConditionInheritanceModeVS", "type": null, "experimental": null, "resourceType": "ValueSet", "title": "Condition Inheritance Patterns", "package_version": "2.0.0", "status": "active", "id": "b462003f-31cb-445d-b8da-83360e51ef2c", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs", "version": "2.0.0", "contact": [ { "name": "HL7 Clinical Genomics Working Group", "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" }, { "value": "cg@lists.HL7.org", "system": "email" } ] } ] }