1.3.6.1.4.1.19376.1.5.3.1.1.16.5.4
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APR H&P Family History and Genetic Screening Observation Codes Value Set 1.3.6.1.4.1.19376.1.5.3.1.1.16.5.4
| 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 |