Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

disorder

SNOMED 702428000CUI C2673195

Overview

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

Signs & Symptoms

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

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Tortuous retinal arterioles

Always present (100%)HP:0001136

Multiple kidney cysts

Very frequent (80-99%)HP:0005562

Muscle spasm

Very frequent (80-99%)HP:0003394

Renal insufficiency

Very frequent (80-99%)HP:0000083

Tortuous retinal vessels

Very frequent (80-99%)HP:0012841

Abnormality of the periventricular white matter

Frequent (30-79%)HP:0002518

Cerebral artery aneurysm

Frequent (30-79%)HP:0004944

Lacunar stroke

Frequent (30-79%)HP:0032325

Raynaud phenomenon

Frequent (30-79%)HP:0030880

Supraventricular arrhythmias

Frequent (30-79%)HP:0005115

Cystic kidney disease

Occasional (5-29%)HP:0000107

High urine occult blood

Occasional (5-29%)HP:0000790

Dull intelligence

Excluded (<1%)HP:0001249

Retinal bleeding

HP:0000573

Related Conditions

Autosomal dominant hereditary disorder(parent)

Vascular disease(parent)

Cardiovascular system hereditary disorder(parent)

Quick Facts

SNOMED CT: 702428000
UMLS CUI: C2673195
Fully Specified Name: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.