{ "description": "A set of terms that describe the transmission pattern of a condition in a pedigree.", "_filename": "CodeSystem-ConditionInheritanceMode.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2021-04-13T19:13:37+00:00", "publisher": "HL7 International Clinical Genomics Work Group", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm" } ] } ], "content": "complete", "name": "ConditionInheritanceMode", "type": null, "experimental": null, "resourceType": "CodeSystem", "title": "Condition Inheritance Pattern", "package_version": "1.1.0", "status": "active", "id": "ba1cbb8a-44f3-4183-a020-c6170aeef186", "kind": null, "count": 25, "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/ConditionInheritanceMode", "concept": [ { "code": "GENO:0000143", "display": "Codominant inheritance" }, { "code": "GENO:0000889", "display": "Unknown inheritance" }, { "code": "GENO:0000892", "display": "Mitochondrial inheritance (primarily or exclusively heteroplasmic)" }, { "code": "GENO:0000893", "display": "Mitochondrial inheritance (primarily or exclusively homoplasmic)" }, { "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": "SEPIO-CG:97020", "display": "Semidominant inheritance" }, { "code": "SEPIO-CG:97021", "display": "X-linked inheritance (primarily recessive with milder female expression)" }, { "code": "SEPIO-CG:97022", "display": "Autosomal dominant inheritance (with genetic anticipation)" }, { "code": "SEPIO-CG:97023", "display": "Autosomal recessive inheritance (with genetic anticipation)" } ], "version": "1.1.0", "contact": [ { "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" } ] } ] }