| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113762.1.4.1032.4 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.4 |
| version | 20220318 |
| status | active |
| publisher | MITRE Steward |
| name | FamilialHypercholesterolemiaSNOMEDCT |
| title | Familial Hypercholesterolemia SNOMEDCT |
| date | 2022-03-18T01:03:48-04:00 |
| experimental | false |
| Usages |
|
This value set contains 13 concepts
| Code | System | Display |
| 238040008 | http://snomed.info/sct | Familial combined hyperlipidemia (disorder) |
| 238077000 | http://snomed.info/sct | Polygenic hypercholesterolemia (disorder) |
| 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) |
| 398796005 | http://snomed.info/sct | Familial type 3 hyperlipoproteinemia (disorder) |
| 402474007 | http://snomed.info/sct | Primary polygenic type IIb combined hyperlipidemia (disorder) |
| 402787000 | http://snomed.info/sct | Primary genetic mixed hyperlipidemia (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) |
Produced 08 Sep 2023