PHTS is granted an International Classification of Diseases (ICD) Code! - Click here for more information.

International Classification of Diseases Code

PHTS granted ICD Code

  • The International Classification of Diseases Clinical Modification, revision 10, Clinical Modification system (ICD-10-CM) will now include PHTS.
  • A unique code for PHTS (Q85.81) will be incorporated into the revision to be published on October 1, 2022.
  • The code will improve patient care and facilitate future clinical, natural history and epidemiological research.

The PTEN Research Foundation is proud to announce that PHTS has been given a new and unique disease code in the International Classification of Diseases revision 10, Clinical Modification (ICD-10-CM) system that is managed by the US Center for Disease Control and Prevention (CDC). The new code will be incorporated in the October 1, 2022 revision.

The ICD-10-CM system uses a list of alphanumeric codes to document an individual’s medical condition in their medical records. For example, a person experiencing migraine headaches will receive a code from category G43 and a person with a urinary tract infection will receive an N39.0 code. Now, individuals with PHTS will be allocated the Q85.81 code. These codes are used routinely for health insurance billing and reimbursement, and also support clinical, natural history and epidemiological research.

  • Having a unique code for PHTS is a major milestone not only for the individuals and their families affected by the condition but also for researchers working in the area of PHTS. We believe the new code will improve awareness of PHTS and patient care by facilitating access to multidisciplinary treatment, and that it will support PHTS research including epidemiological and natural history studies.

    Thomas Pepper, Chief Executive of PTEN Research Foundation

In September 2021, PTEN Research Foundation in partnership with Prof. Charis Eng, and David Flannery M.D., from Cleveland Clinic Genomic Medicine Institute, and Prof. Marc Tischkowitz, from the Department of Medical Genetics at Cambridge University, UK presented the application to the CDC ICD-10-CM Coordination and Maintenance Committee for a new unique code for PHTS. The application was supported by leading physicians involved in the care of individuals with PHTS around the world, PHTS patient organisations, the Association for Molecule Pathology (AMP), the American Health Information Management Association (AHIMA), and pharmaceutical companies with an interest in PHTS research.

  • The issue with the existing codes was that they simply did not allow recording of PHTS as a condition that can only be diagnosed by genetic testing. The new code Q85.81 is unique to PHTS and the selection of a Q code is appropriate for a disease we know is caused by a genetic alteration. It will be helpful to both patients and physicians as it provides enhanced efficacy of care as well as increased efficiency to conduct clinical trials to improve treatments.

    Professor Charis Eng, Cleveland Clinic Genomic Medicine Institute

Whilst ICD-10 is the current coding system in place in most countries (with ICD-10-CM being the specific system in place for the US), a future major revision (ICD-11) is already in development under the auspices of the World Health Organisation (WHO). The team have already made an application to WHO with the aim of ensuring that PHTS continues to have its own unique code and that ICD-10-CM and ICD-11 codes for PHTS are aligned.

About ICD-10-CM and Rare Diseases

It is estimated that there are around 7000 known rare diseases, but only about 500 are currently listed in the ICD system. The lack of an appropriate disease-specific code can create difficulties accessing insurance and reimbursement for affected individuals and their families. Lack of a specific code also hampers research into these conditions. For example, it has been difficult to estimate the incidence and prevalence of PHTS because of its varied presentations and because some features also commonly occur in the general population.


Click here to view the press release.