icd 10 code for von hippel-lindau syndrome

What is the ICD-10-CM index for von Hippel Disease or syndrome?

References in the ICD-10-CM Index to Diseases and Injuries applicable to the clinical term "von hippel (-lindau) disease or syndrome" Von Hippel (-Lindau) disease or syndrome - Q85.8 Other phakomatoses, not elsewhere classified Previous Term: Von Gierkes Disease Next Term: Von Jakschs Anemia Or Disease

What are the symptoms of von Hippel Lindau disease?

Symptoms Symptoms. Listen. Symptoms of von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia).

What is von Hippel-Lindau disease (VHL)?

Von hippel-lindau disease (vhl) is a rare, genetic disease that causes tumors and cysts to grow in your body. The tumors can be either cancerous or benign. They can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. Symptoms of vhl vary and depend on the size and location of the tumors.

What tests are used to diagnose von Hippel-Lindau disease?

The diagnosis of von Hippel-Lindau disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a change ( mutation) in the VHL gene. blood and urinary catecholamine metabolites.

What is Hippel-Lindau syndrome?

Listen to pronunciation. (von HIH-pul-LIN-dow SIN-drome) A rare, inherited disorder that causes tumors and cysts to grow in certain parts of the body, including the brain, spinal cord, eyes, inner ear, adrenal glands, pancreas, kidney, and reproductive tract.

What is the ICD 10 code for Peutz Jeghers syndrome?

Q85. 8 - Other phakomatoses, not elsewhere classified | ICD-10-CM.

Is Von Hippel-Lindau an autoimmune disease?

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant disorder characterized by renal cysts, retinal angiomas, central nervous system hemangioblastomas, and pancreatic cysts. Evan's syndrome is a hematologic disorder characterized by autoimmune thrombocytopenia and autoimmune hemolytic anemia.

What is Phakomatoses not elsewhere classified?

8 for Other phakomatoses, not elsewhere classified is a medical classification as listed by WHO under the range - Congenital malformations, deformations and chromosomal abnormalities .

What is Cowden's disease?

Listen to pronunciation. (KOW-den SIN-drome) A rare inherited disorder marked by the presence of many benign (not cancer) growths called hamartomas and an increased risk of cancer. Hamartomas form in different parts of the body, especially the skin, mouth, and gastrointestinal tract.

Is VHL dominant or recessive?

VHL disease is an autosomal dominant disorder resulting from a deletion or mutation in the VHL gene located on the short arm of chromosome 3. Each child of a person with VHL is at 50% risk of inheriting the altered copy of the gene.

What is the cause of von Hippel-Lindau disease?

Von Hippel-Lindau (VHL) syndrome is a rare disorder caused by a mutation in a single gene called the VHL gene. If you have VHL syndrome, you are at greater risk of developing certain tumors.

What does von Hippel-Lindau syndrome affect?

VHL disease is an inherited disorder that causes tumors and cysts to grow in certain areas of the body, including the central nervous system (including the brainstem, cerebellum, and spinal cord), retina, endolymphatic sac in the ear, adrenal glands, pancreas, kidneys, epididymis (in males), and broad ligament (in ...

What cancers does VHL cause?

Patients with VHL syndrome have an increased risk of certain types of cancer, especially kidney cancer and pancreatic cancer. The signs and symptoms of VHL syndrome usually do not appear until young adulthood. It is caused by a mutation (change) in the VHL gene.

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Epidemiology

Prevalence is estimated at 1/53,000 and annual birth incidence at 1/36,000. Men and women are equally affected. Mean age at diagnosis is 26 years (range: infancy - 7th decade).

Clinical description

Retinal hemangioblastomas are the most common presenting feature (multiple and bilateral in about 50% of cases). They are usually asymptomatic, but they can cause retinal detachment, macular edema, glaucoma, and vision loss.

Etiology

VHL is caused by highly penetrant mutations in the VHL gene (3p25.3), a classic tumor suppressor. Most cases are diagnosed via a germline mutation.

Diagnostic methods

Diagnosis can be made in the presence of a single typical tumor (e.g. retinal or CNS hemangioblastomas or RCC) and a positive family history of VHL. If there is no family history (about 20% de novo ), multiple tumors (e.g. two hemangioblastomas or a hemangioblastoma and an RCC) are required for diagnosis.

Differential diagnosis

Differential diagnoses include multiple endocrine neoplasia, neurofibromatosis, polycystic kidney disease, tuberous sclerosis, Birt-Hogg-Dube syndrome, and hereditary pheochromocytoma-paraganglioma syndromes (see these terms) associated with succinate dehydrogenase subunit mutations ( SDHB, SDHC and SDHD ).

Antenatal diagnosis

Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villus cells if a disease-causing mutation has been identified in an affected family member.

What is the ICd 10 code for phakomatosis?

Q85.8 is a billable diagnosis code used to specify a medical diagnosis of other phakomatoses, not elsewhere classified. The code Q85.8 is valid during the fiscal year 2021 from October 01, 2020 through September 30, 2021 for the submission of HIPAA-covered transactions.#N#The ICD-10-CM code Q85.8 might also be used to specify conditions or terms like angiomatosis of meninges, arteriovenous angioma, basal cell nevus with comedones, centrofacial lentiginosis syndrome, congenital erector pili hamartoma , congenital leptomeningeal angiomatosis, etc. The code is exempt from present on admission (POA) reporting for inpatient admissions to general acute care hospitals.

Can you have VHL if you have a tumor?

Your health care provider may suspect that you have VHL if you have certain patterns of cysts and tumors. There is a genetic test for VHL. If you have it, you will need other tests, including imaging tests, to look for tumors and cysts.

What is the cause of Von Hippel-Lindau disease?

Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably. This contributes to the formation of the tumors associated with VHL disease. [2]

What is VHL disease?

VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors. [1] [2] Last updated: 2/2/2016.

What is MedlinePlus?

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Genetics Home Reference (GHR) contains information on Von Hippel-Lindau disease. This website is maintained by the National Library of Medicine.

Can a VHL cause hearing loss?

These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. [1] [2] Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer. [949] . Renal cell carcinoma occurs in about 70% of individuals with VHL disease by age 60 ...

Is VHL inherited?

Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease.