{ "description": "This value set includes the type of genetic-related risks identified through screening of the patient’s and biological father’s family history.", "compose": { "include": [ { "system": "http://snomed.info/sct", "concept": [ { "code": "408856003", "display": "Autism" }, { "code": "414022008", "display": "Blood Disorders" }, { "code": "80544005", "display": "Canavan Disease" }, { "code": "409709004", "display": "Chromosomal Disorder Includes any inherited genetic or chromosomal disorders" }, { "code": "13213009", "display": "Congenital Heart Defect" }, { "code": "190905008", "display": "Cystic Fibrosis" }, { "code": "276720006", "display": "Dysmorphism (Birth Defect) Patient or baby's father has a child with birth defects" }, { "code": "41040004", "display": "Down Syndrome" }, { "code": "29159009", "display": "Familial Dysautonomia" }, { "code": "90935002", "display": "Hemophilia" }, { "code": "58756001", "display": "Huntington's Chorea" }, { "code": "75934005", "display": "Maternal Metabolic Disorder" }, { "code": "91138005", "display": "Mental Retardation" }, { "code": "73297009", "display": "Muscular Dystrophy" }, { "code": "253098009", "display": "Neural Tube Defect" }, { "code": "102878001", "display": "Recurrent pregnancy loss/stillbirth" }, { "code": "417357006", "display": "Sickle Cell Disease" }, { "code": "16402000", "display": "Sickle Cell Trait" }, { "code": "111385000", "display": "Tay-Sachs" }, { "code": "40108008", "display": "Thalassemia" } ] } ] }, "_filename": "ValueSet-Antepartum.Family.History.and.Genetic.Screening.VS.json", "package_name": "ihe.pcc.maps", "date": "2024-06-04T15:28:59-05:00", "publisher": "IHE Patient Care Coordination Committee", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm" } ] } ], "name": "Antepartum_Family_History_and_Genetic_Screening_VS", "type": null, "experimental": "false", "resourceType": "ValueSet", "title": "Antepartum Family History and Genetic Screening", "package_version": "1.0.0-comment", "status": "active", "id": "e2bebb9d-86b9-424e-896e-a9b0c8c3fe11", "kind": null, "url": "https://profiles.ihe.net/PCC/mAPS/ValueSet/Antepartum.Family.History.and.Genetic.Screening.VS", "version": "1.0.0-comment", "contact": [ { "telecom": [ { "value": "https://www.ihe.net/ihe_domains/patient_care_coordination/", "system": "url" } ] }, { "telecom": [ { "value": "pcc@ihe.net", "system": "email" } ] }, { "name": "IHE Patient Care Coordination Committee", "telecom": [ { "value": "pcc@ihe.net", "system": "email" } ] } ] }