OMOP Concept 35608140
Double heterozygous familial hypercholesterolemia
StandardConditionSNOMED767133009Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2018
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to Double heterozygous familial hypercholesterolemia via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 767133009 | Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations | Non-standard |
Synonyms
Alternative names recorded for Double heterozygous familial hypercholesterolemia across source vocabularies.
- Compound heterozygous familial hypercholesterolaemia
- Compound heterozygous familial hypercholesterolemia
- Double heterozygous familial hypercholesterolaemia
- Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
- Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
- Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)
- hipercolesterolemia familiar concomitante con mutaciones combinadas del receptor de lipoproteína de baja densidad heterocigota y de la proteína 1 del adaptador de lipoproteína de baja densidad y debida a ellas
- hipercolesterolemia familiar concomitante con mutaciones combinadas del receptor de lipoproteína de baja densidad heterocigota y de la proteína 1 del adaptador de lipoproteína de baja densidad y debida a ellas (trastorno)
- hipercolesterolemia familiar heterocigota compuesta
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(38)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations
- 1Familial hypercholesterolemia
- 2Autosomal hereditary disorder
- 2Low density lipoprotein receptor adaptor protein 1 mutation
- 2Primary hypercholesterolemia
- 3Hereditary disease
- 3Hypercholesterolemia
- 3Low density lipoprotein receptor mutation
- 4Disorder of lipoprotein storage and metabolism
- 4Genetic disease
- 4Hyperlipidemia
- 4Serum cholesterol above reference range
- 5Disease
- 5Disorder of lipoprotein AND/OR lipid metabolism
- 5Lipid above reference range
- 5Serum cholesterol outside reference range
- 5Serum lipids above reference range
- 6Blood substance level above reference range
- 6Clinical finding
- 6Lipids outside reference range
- 6Measurement finding above reference range
- 6Metabolic disease
- 6Serum cholesterol level - finding
- 6Serum lipid levels - finding
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