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Familial Hypercholesterolemia - Medical Condition Information

Familial Hypercholesterolemia

Homozygous Familial Hypercholesterolemia
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📋Overview

Familial Hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C) from birth, leading to an increased risk of premature cardiovascular disease. It is caused by inherited mutations affecting LDL receptor function or related pathways. FH is a well-established condition with autosomal dominant inheritance and is classified into heterozygous and homozygous forms based on the number of mutated alleles.

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Medical codes (for reference)

UMLS CUI: C0020445
ICD-10-CM
E78.01
MeSH
D006938
SNOMED CT (US)
398036000190773008

Codes are provided for reference and interoperability. They are not a diagnosis.

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