OMOP Concept 4295608
Familial hypercholesterolemia due to heterozygous LDL receptor mutation
StandardConditionSNOMED403829002Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2003
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Familial hypercholesterolemia due to heterozygous LDL receptor mutation via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 403829002 | Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation | Non-standard |
Synonyms
Alternative names recorded for Familial hypercholesterolemia due to heterozygous LDL receptor mutation across source vocabularies.
- Familial hypercholesterolaemia due to heterozygous LDL receptor mutation
- Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation
- Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
- Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)
- hipercolesterolemia familiar por mutación heterocigota del receptor de LDL
- hipercolesterolemia familiar por mutación heterocigota del receptor de LDL (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(31)Roll up to these when you need a wider cohort.
- 1Familial hypercholesterolemia
- 2Primary hypercholesterolemia
- 3Hypercholesterolemia
- 4Hyperlipidemia
- 4Serum cholesterol above reference range
- 5Disorder of lipoprotein storage and metabolism
- 5Lipid above reference range
- 5Serum cholesterol outside reference range
- 5Serum lipids above reference range
- 6Blood substance level above reference range
- 6Disorder of lipoprotein AND/OR lipid metabolism
- 6Lipids outside reference range
- 6Measurement finding above reference range
- 6Serum cholesterol level - finding
- 6Serum lipid levels - finding
- 7Cholesterol level - finding
- 7Finding of blood substance level
- 7Lipid level - finding
- 7Measurement finding outside reference range
- 7Metabolic disease
- 8Disease
- 8Finding of substance level
- 8Measurement finding
- 9Clinical finding
- 9Evaluation finding
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