ICD-10 Diagnosis Code E78.01

Familial hypercholesterolemia

Diagnosis Code E78.01

ICD-10: E78.01
Short Description: Familial hypercholesterolemia
Long Description: Familial hypercholesterolemia
This is the 2018 version of the ICD-10-CM diagnosis code E78.01

Valid for Submission
The code E78.01 is valid for submission for HIPAA-covered transactions.

Code Classification
  • Endocrine, nutritional and metabolic diseases (E00–E90)
    • Metabolic disorders (E70-E88)
      • Disorders of lipoprotein metabolism and other lipidemias (E78)

Information for Medical Professionals

Convert to ICD-9 Additional informationCallout TooltipGeneral Equivalence Map
The ICD-10 and ICD-9 GEMs are used to facilitate linking between the diagnosis codes in ICD-9-CM and the new ICD-10-CM code set. The GEMs are the raw material from which providers, health information vendors and payers can derive specific applied mappings to meet their needs.

Synonyms
  • Familial defective apolipoprotein B-100
  • Familial hyperalphalipoproteinemia
  • Familial hypercholesterolemia
  • Familial hypercholesterolemia - heterozygous
  • Familial hypercholesterolemia - homozygous
  • Familial hypercholesterolemia due to genetic defect of apolipoprotein B
  • Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
  • Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation
  • Fredrickson type IIa hyperlipoproteinemia
  • Hyperalphalipoproteinemia

Replacement Code Additional informationCallout TooltipReplacement Code
The National Center for Health Statistics (NCHS) has published an update to the ICD-10-CM diagnosis codes which became effective October 1, 2017. This is a new and revised code for the FY 2018 (October 1, 2017-September 30, 2018).

This code replaces the following previously assigned ICD-10 code(s) listed below:
  • E78.0 - Pure hypercholesterolemia


Information for Patients


Cholesterol

Also called: HDL, Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia, LDL

Cholesterol is a waxy, fat-like substance that occurs naturally in all parts of the body. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can combine with other substances in the blood and stick to the walls of your arteries. This is called plaque. Plaque can narrow your arteries or even block them.

High levels of cholesterol in the blood can increase your risk of heart disease. Your cholesterol levels tend to rise as you get older. There are usually no signs or symptoms that you have high blood cholesterol, but it can be detected with a blood test. You are likely to have high cholesterol if members of your family have it, if you are overweight or if you eat a lot of fatty foods.

You can lower your cholesterol by exercising more and eating more fruits and vegetables. You also may need to take medicine to lower your cholesterol.

NIH: National Heart, Lung, and Blood Institute

  • Cholesterol - drug treatment (Medical Encyclopedia)
  • Cholesterol and lifestyle (Medical Encyclopedia)
  • Cholesterol testing and results (Medical Encyclopedia)
  • Familial combined hyperlipidemia (Medical Encyclopedia)
  • Familial hypercholesterolemia (Medical Encyclopedia)
  • High blood cholesterol levels (Medical Encyclopedia)
  • High cholesterol - children (Medical Encyclopedia)
  • How to take statins (Medical Encyclopedia)
  • VLDL test (Medical Encyclopedia)


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Genetic Disorders

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
  • Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

  • Genetics (Medical Encyclopedia)


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