Short answer · Medically reviewed summary · Last updated: 2026-05-08
Lynch Syndrome, formally known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is primarily classified under ICD-10 code Z15.01 (genetic susceptibility to malignant neoplasm of colon) or Z80.0 (family history of malignant neoplasm of digestive organs). While ICD-9 did not have a specific code for the syndrome itself, it was often documented using V84.01 for genetic susceptibility to colon cancer. What is the clinical definition of Lynch Syndrome? Lynch Syndrome is an autosomal dominant genetic condition that significantly increases the lifetime risk of developing colorectal, endometrial, and several other extracolonic cancers.
1 people with Lynch Syndrome have shared their first-person experience on this question at DiseaseMaps.
ICD10 code of Lynch Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Lynch Syndrome, with classification details for clinicians, coders and patients.
Lynch Syndrome, formally known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is primarily classified under ICD-10 code Z15.01 (genetic susceptibility to malignant neoplasm of colon) or Z80.0 (family history of malignant neoplasm of digestive organs). While ICD-9 did not have a specific code for the syndrome itself, it was often documented using V84.01 for genetic susceptibility to colon cancer.
What is the clinical definition of Lynch Syndrome?
Lynch Syndrome is an autosomal dominant genetic condition that significantly increases the lifetime risk of developing colorectal, endometrial, and several other extracolonic cancers. Individuals with Lynch Syndrome carry a germline mutation in one of the DNA mismatch repair (MMR) genes—specifically MLH1, MSH2, MSH6, or PMS2—or the EPCAM gene. Because Lynch Syndrome is inherited, genetic counseling and testing are vital for family members of those diagnosed.
How is Lynch Syndrome diagnosed?
Diagnosis typically involves a two-step process: screening tumor tissue for microsatellite instability (MSI) or immunohistochemistry (IHC) protein expression, followed by germline genetic testing. The 79 members of the Lynch Syndrome community on DiseaseMaps often emphasize the importance of early surveillance, such as colonoscopies starting at age 20-25. Clinical management for Lynch Syndrome is aggressive and preventative, focusing on early cancer detection and risk-reduction strategies.
What are the key features of Lynch Syndrome?
- Increased Cancer Risk: Lifetime risk for colorectal cancer can range from 40% to 80% depending on the specific gene mutation.
- Early Onset: Cancers associated with Lynch Syndrome often present at a younger age than in the general population.
- Extracolonic Manifestations: Elevated risks for cancers of the endometrium, ovary, stomach, small bowel, pancreas, and urinary tract.
- Autosomal Dominant Inheritance: Each child of an affected parent has a 50% chance of inheriting the pathogenic variant.
Next steps
- Consult with a board-certified genetic counselor to discuss your family history and testing options.
- Establish a surveillance schedule with a gastroenterologist experienced in high-risk Lynch Syndrome management.
- Connect with the 79 members in our community at DiseaseMaps.org to share experiences and coping strategies.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases (GARD) Information Center: Lynch Syndrome.
- Orphanet: Lynch Syndrome (ORPHA:144).
- OMIM (Online Mendelian Inheritance in Man): #120435 (Lynch Syndrome).
- Lynch Syndrome International (LSI).
ICD-10-CM Diagnosis Code Z84.81
Posted Sep 18, 2017 by Cathy 2500
