Capillary malformation-arteriovenous malformation syndrome

disorder

SNOMED 703533007CUI C1842180

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.

Capillary malformation

Very frequent (80-99%)HP:0025104

Vascular abnormalities restricted to skin

Frequent (30-79%)HP:0011276

Abnormal limb muscles

Occasional (5-29%)HP:0009127

Arteriovenous fistula

Occasional (5-29%)HP:0004947

Arteriovenous malformation

Occasional (5-29%)HP:0100026

Bleeding tendency

Occasional (5-29%)HP:0001892

Brain ischemia

Occasional (5-29%)HP:0002637

Cerebral AV malformation

Occasional (5-29%)HP:0002408

Flat, discolored area of skin

Occasional (5-29%)HP:0012733

High-output congestive heart failure

Occasional (5-29%)HP:0001722

Lymphatic disease

Occasional (5-29%)HP:0100763

Lymphatic obstruction

Occasional (5-29%)HP:0001004

Nasal hemorrhage

Occasional (5-29%)HP:0000421

Peripheral arteriovenous fistula

Occasional (5-29%)HP:0100784

Telangiectasia

Occasional (5-29%)HP:0001009

Vein of Galen aneurysmal malformation

Occasional (5-29%)HP:0030713

Cardiac anomaly

Very rare (1-4%)HP:0001627

Cardiac insufficiency

Very rare (1-4%)HP:0001635

Chylothorax

Very rare (1-4%)HP:0010310

Epilepsy

Very rare (1-4%)HP:0001250

Facial capillary hemangioma

Very rare (1-4%)HP:0000996

Functional motor deficit

Very rare (1-4%)HP:0004302

Headache

Very rare (1-4%)HP:0002315

Hemangiomata

Very rare (1-4%)HP:0001028

Hypopigmented macule

Very rare (1-4%)HP:0020073

Lack of bladder control due to nervous system injury

Very rare (1-4%)HP:0000011

Migraine headache

Very rare (1-4%)HP:0002076

Nonimmune hydrops fetalis

Very rare (1-4%)HP:0001790

Nonsyndromal hydrocephalus

Very rare (1-4%)HP:0000238

Capillary hemangioma

HP:0005306

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Cardiovascular system hereditary disorder(parent)

Cutaneous capillary vascular malformation(parent)

Congenital arteriovenous malformation(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 703533007
UMLS CUI: C1842180
Fully Specified Name: Capillary malformation-arteriovenous malformation syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.