| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113762.1.4.1078.421 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1078.421 |
| version | 20230323 |
| status | active |
| publisher | Optum Steward |
| name | FamilialHypercholesterolemia |
| title | Familial hypercholesterolemia |
| date | 2023-03-23T01:02:49-04:00 |
| Usages | (none) |
This value set contains 9 concepts
| Code | System | Display |
| 238078005 | http://snomed.info/sct | Familial hypercholesterolemia - homozygous (disorder) |
| 238079002 | http://snomed.info/sct | Familial hypercholesterolemia - heterozygous (disorder) |
| 397915002 | http://snomed.info/sct | Fredrickson type IIa hyperlipoproteinemia (disorder) |
| 398036000 | http://snomed.info/sct | Familial hypercholesterolemia (disorder) |
| 403829002 | http://snomed.info/sct | Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder) |
| 403830007 | http://snomed.info/sct | Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder) |
| 403831006 | http://snomed.info/sct | Familial hypercholesterolemia due to genetic defect of apolipoprotein B (disorder) |
| 767133009 | http://snomed.info/sct | Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder) |
| E78.01 | http://hl7.org/fhir/sid/icd-10-cm | Familial hypercholesterolemia |
Produced 08 Sep 2023