OMOP Concept 4134862
Familial hypercholesterolemia
StandardConditionSNOMED398036000Disorder
Maps from
9
Descendants
7
Valid from
31 Jul 2003
Valid to
31 Dec 2099
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Source codes that map to this concept
9 source codes normalize to Familial hypercholesterolemia via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| ICD10CM | E78.01 | Familial hypercholesterolemia | Non-standard |
| ICD10CM | E78.019 | Familial hypercholesterolemia, unspecified | Non-standard |
| MeSH | D006938 | Hyperlipoproteinemia Type II | Non-standard |
| Nebraska Lexicon | 398036000 | Low density lipoprotein catabolic defect | Non-standard |
| Read | C320000 | Familial hypercholesterolaemia | Non-standard |
| Read | C320.11 | Familial hypercholesterolaemia | Non-standard |
| Read | C320.12 | Fredrickson type IIa lipidaemia | Non-standard |
| Read | C320300 | Low-density-lipoprotein-type (LDL) hyperlipoproteinaemia | Non-standard |
| Read | C320400 | Fredrickson's hyperlipoproteinaemia, type IIa | Non-standard |
Synonyms
Alternative names recorded for Familial hypercholesterolemia across source vocabularies.
- Essential familial hypercholesterolaemia
- Essential familial hypercholesterolemia
- Familial hyperbetalipoproteinaemia
- Familial hyperbetalipoproteinemia
- Familial hypercholesterolaemia
- Familial hypercholesterolemia (disorder)
- hipercolesterolemia familiar
- hipercolesterolemia familiar (trastorno)
- LDL - Low density lipoprotein receptor disorder
- LDL receptor disorder
- Low density lipoprotein catabolic defect
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(30)Roll up to these when you need a wider cohort.
- 1Primary hypercholesterolemia
- 2Hypercholesterolemia
- 3Hyperlipidemia
- 3Serum cholesterol above reference range
- 4Disorder of lipoprotein storage and metabolism
- 4Lipid above reference range
- 4Serum cholesterol outside reference range
- 4Serum lipids above reference range
- 5Blood substance level above reference range
- 5Disorder of lipoprotein AND/OR lipid metabolism
- 5Lipids outside reference range
- 5Measurement finding above reference range
- 5Serum cholesterol level - finding
- 5Serum lipid levels - finding
- 6Cholesterol level - finding
- 6Finding of blood substance level
- 6Lipid level - finding
- 6Measurement finding outside reference range
- 6Metabolic disease
- 7Disease
- 7Finding of substance level
- 7Measurement finding
- 8Clinical finding
- 8Evaluation finding
- 8Measurement of substance
Narrower concepts
(7)Included automatically when you query with descendants.
- 1Double heterozygous familial hypercholesterolemia
- 1Familial hypercholesterolemia due to genetic defect of apolipoprotein B
- 1Familial hypercholesterolemia due to heterozygous LDL receptor mutation
- 1Familial hypercholesterolemia due to homozygous LDL receptor mutation
- 1Familial hypercholesterolemia - heterozygous
- 1Familial hypercholesterolemia - homozygous
- 1Fredrickson type IIa hyperlipoproteinemia
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