Von Hippel-Lindau syndrome

disorder

SNOMED 46659004CUI C0019562

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Belzutifan

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Eye disease

Very frequent (80-99%)HP:0000478

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Adrenal pheochromocytoma

Frequent (30-79%)HP:0006748

Cerebellar hemangioblastoma

Frequent (30-79%)HP:0006880

Elevated urinary catecholamines

Frequent (30-79%)HP:0011976

High blood pressure

Frequent (30-79%)HP:0000822

Renal carcinoma

Frequent (30-79%)HP:0005584

Retinal hemangioblastoma

Frequent (30-79%)HP:0009711

Ringing in ears

Frequent (30-79%)HP:0000360

Abnormal heart rate

Occasional (5-29%)HP:0011675

Anxiety disease

Occasional (5-29%)HP:0000739

Back pain

Occasional (5-29%)HP:0003418

Cerebral vascular events

Occasional (5-29%)HP:0001297

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Distal muscle weakness in lower limbs

Occasional (5-29%)HP:0009053

Dizziness

Occasional (5-29%)HP:0002321

Elevated circulating catecholamine level

Occasional (5-29%)HP:0003334

Endolymphatic sac tumour

Occasional (5-29%)HP:0030393

Headache

Occasional (5-29%)HP:0002315

Hypertensive retinopathy

Occasional (5-29%)HP:0001095

Left ventricular impairment

Occasional (5-29%)HP:0005162

Limb pain

Occasional (5-29%)HP:0009763

Macular oedema

Occasional (5-29%)HP:0040049

Multiple kidney cysts

Occasional (5-29%)HP:0005562

Paleness

Occasional (5-29%)HP:0000980

Pancreatic cyst

Occasional (5-29%)HP:0001737

Pancreatic endocrine tumor

Occasional (5-29%)HP:0030405

Pancreatic islet cell adenoma

Occasional (5-29%)HP:0008261

Papillary cystadenoma of the epididymis

Occasional (5-29%)HP:0009715

Papillitis

Occasional (5-29%)HP:0001085

Related Conditions

Neuroectodermal dysplasia(parent)

Hereditary neoplastic syndrome(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the integument(parent)

Quick Facts

SNOMED CT: 46659004
UMLS CUI: C0019562
Fully Specified Name: Von Hippel-Lindau syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 1

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.