OMOP Concept 4298010
Familial hypercholesterolemia due to homozygous LDL receptor mutation
StandardConditionSNOMED403830007Disorder
Maps from
0
Descendants
0
Valid from
31 Jul 2003
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Familial hypercholesterolemia due to homozygous LDL receptor mutation across source vocabularies.
- Familial hypercholesterolaemia due to homozygous LDL receptor mutation
- Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation
- Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation
- Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)
- hipercolesterolemia familiar por mutación homocigota del receptor de LDL
- hipercolesterolemia familiar por mutación homocigota del receptor de LDL (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(35)Roll up to these when you need a wider cohort.
- 1Familial hypercholesterolemia - homozygous
- 2Autosomal hereditary disorder
- 2Familial hypercholesterolemia
- 3Hereditary disease
- 3Primary hypercholesterolemia
- 4Genetic disease
- 4Hypercholesterolemia
- 5Disease
- 5Hyperlipidemia
- 5Serum cholesterol above reference range
- 6Clinical finding
- 6Disorder of lipoprotein storage and metabolism
- 6Lipid above reference range
- 6Serum cholesterol outside reference range
- 6Serum lipids above reference range
- 7Blood substance level above reference range
- 7Disorder of lipoprotein AND/OR lipid metabolism
- 7Lipids outside reference range
- 7Measurement finding above reference range
- 7Serum cholesterol level - finding
- 7Serum lipid levels - finding
- 8Cholesterol level - finding
- 8Finding of blood substance level
- 8Lipid level - finding
- 8Measurement finding outside reference range
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