OMOP Concept 4079885
Familial hypercholesterolemia - homozygous
StandardConditionSNOMED238078005Disorder
Maps from
2
Descendants
1
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Familial hypercholesterolemia - homozygous via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| ICD10CM | E78.010 | Homozygous familial hypercholesterolemia [HoFH] | Non-standard |
| MeSH | D000090542 | Homozygous Familial Hypercholesterolemia | Non-standard |
Synonyms
Alternative names recorded for Familial hypercholesterolemia - homozygous across source vocabularies.
- Familial homozygous hypercholesterolaemia
- Familial homozygous hypercholesterolemia
- Familial hypercholesterolaemia - homozygous
- Familial hypercholesterolemia - homozygous (disorder)
- hipercolesterolemia familiar - homocigota
- hipercolesterolemia familiar - homocigota (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(34)Roll up to these when you need a wider cohort.
- 1Autosomal hereditary disorder
- 1Familial hypercholesterolemia
- 2Hereditary disease
- 2Primary hypercholesterolemia
- 3Genetic disease
- 3Hypercholesterolemia
- 4Disease
- 4Hyperlipidemia
- 4Serum cholesterol above reference range
- 5Clinical finding
- 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
Showing 25 of 34. Retrieve the full set via the API.
Narrower concepts
(1)Included automatically when you query with descendants.
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