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APR H&P Family History and Genetic Screening Observation Codes Value Set

Name Opt Type Units SNOMED CT LOINC
Thalassemia R2 CD   40108008
Neural Tube Defect R2 CD   253098009
Congenital Heart Defect R2 CD   13213009
Down Syndrome R2 CD   41040004
Tay-Sachs R2 CD   111385000
Canavan Disease R2 CD   80544005
Familial Dysautonomia R2 CD   29159009
Sick Cell Disease R2 CD   417357006
Sick Cell Trait R2 CD   16402000
Hemophilia R2 CD   90935002
Blood Disorders R2 CD   414022008
Muscular Dystrophy R2 CD   73297009
Cystic Fibrosis R2 CD   190905008
Huntington's Chorea R2 CD   58756001
Mental Retardation R2 CD   91138005
Autism R2 CD   408856003
Chrosomosal Disorder
Includes any inherited genetic or chromosomal disorders
R2 CD   409709004
Maternal Metabolic Disorder R2 CD   75934005
Dysmorphism (Birth Defect)
Patient or baby's father has a child with birth defects
R2 CD   276720006
Recurrent pregnancy loss/stillbirth R2 CD   102878001