NO.1 MEDICAL CODING IN CALICUT

 E70.330

 (CHEDIAK HIGASHI SYNDROME)

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder that usually occurs in childhood characterized by reduced pigment in the skin and eyes (oculocutaneous albinism), immune deficiency with an increased susceptibility to infections, and a tendency to bruise and bleed easily. 

CAUSES

CHS is an inherited condition caused by a defect in the LYST gene (also called the CHS1 gene). The LYST gene gives the body instructions on how to make the protein that’s responsible for transporting certain materials to your lysosomes.

Lysosomesare structures inside some of your cells that break down toxins, destroy bacteria, and recycle worn out cell components. The defect in the LYST gene causes the lysosomes to grow too large. The enlarged lysosomes interfere with normal cell functions. They prevent cells from seeking out and killing bacteria, so your body isn’t able to protect itself from recurring infections.

In pigment cells, abnormally large structures called melanosomes (related to lysosomes) produce and distribute melanin. Melanin is the pigment that gives color to skin, hair, and eyes. People with CHS have albinism because melanin is trapped within the larger cell structures.

Chediak-Higashi is an autosomal recessive inherited disorder. Both parents of a child with this type of genetic disorder carry a copy of the defective gene, but they usually don’t show signs of the condition.

If only one parent passes on the defective gene, the child won’t have the syndrome but may be a carrier. That means they could pass the gene on to their children.

SYMPTOMS

• brown or light-colored hair with a silvery sheen.
• light colored eyes.
• white or grayish skin tone.
• nystagmus (involuntary eye movements)
• frequent infections in the lungs, skin, and mucous membranes.

There is no cure for CHS. Treatment consists of managing symptoms.

Antibiotics will treat infections. Corrective eye lenses may be prescribed to improve vision. Bone marrow transplants may help treat defects in the immune system. This procedure is most effective when performed before a person develops the accelerated phase of the disorder.

If your child is in the accelerated phase, your doctor may prescribe antiviral medications and chemotherapy drugs to try to minimize the spread of the defective cells.

• E70.330 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
• The 2022 edition of ICD-10-CM E70.330 became effective on October 1, 2021.
• This is the American ICD-10-CM version of E70.330 - other international versions of ICD-10 E70.330 may differ.

The following code(s) above E70.330 contain annotation back-references

 that may be applicable to E70.330:

• E00-E89 
   Endocrine, nutritional and metabolic diseases
• E70-E88 
   Metabolic disorders

Approximate Synonyms

• Chediak higashi syndrome
• Chèdiak-higashi syndrome
• Chédiak-higashi syndrome

Clinical Information

• A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the aleutian mink, and albino hereford cattle.
• A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-higashi syndrome (chs) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (nk) cell function. Chs may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. Chs occurs in mink, cattle, and mice, as well as man.
• Form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections; in many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions; transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the aleutian mink, and albino hereford cattle.

ICD-10-CM E70.330 is grouped within Diagnostic Related Group(s) (MS-DRG v39.0):

• 642 Inborn and other disorders of metabolism

Convert E70.330 to ICD-9-CM

Code History

• 2016 (effective 10/1/2015): New code (first year of non-draft ICD-10-CM)
• 2017 (effective 10/1/2016): No change
• 2018 (effective 10/1/2017): No change
• 2019 (effective 10/1/2018): No change
• 2020 (effective 10/1/2019): No change
• 2021 (effective 10/1/2020): No change
• 2022 (effective 10/1/2021): No change

Code annotations containing back-references to E70.330:

• Type 1 Excludes: D72.0
  , E70.32

Diagnosis Index entries containing back-references to E70.330:

• Albinism, albino E70.30
  • with hematologic abnormality E70.339
    • Chédiak-Higashi syndrome E70.330
• Anomaly, anomalous (congenital) (unspecified type) Q89.9
  • Chédiak-Higashi E70.330 (-Steinbrinck) (congenital gigantism of peroxidase granules)
• Chédiak-Higashi E70.330 (-Steinbrinck) syndrome (congenital gigantism of peroxidase granules)
• Disease, diseased - see also Syndrome
  • Chédiak-Steinbrinck E70.330 (-Higashi) (congenital gigantism of peroxidase granules)

• Syndrome - see also Disease
  • Béquez César E70.330 (-Steinbrinck-Chédiak-Higashi)
  • Chédiak-Higashi E70.330 (-Steinbrinck)
  • 
    

National Institute of Medical Coding

http://nationalinstituteofmedicalcoding.com/

Ph:09495833322