Port-wine stain with oculocutaneous melanosis

disorder

SNOMED 403545005CUI C1274879

Overview

Port-wine stain with oculocutaneous melanosis is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Arteriovenous malformation

Very frequent (80-99%)HP:0100026

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Generalised hyperpigmentation

Very frequent (80-99%)HP:0007440

Hypopigmented skin patches

Very frequent (80-99%)HP:0001053

Paresthesia

Very frequent (80-99%)HP:0003401

port-wine stain

Very frequent (80-99%)HP:0001052

Abnormal deposits of calcium in the brain

Frequent (30-79%)HP:0002514

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Epilepsy

Frequent (30-79%)HP:0001250

Glaucoma

Frequent (30-79%)HP:0000501

Intellectual impairment

Frequent (30-79%)HP:0100543

Grey sclerae

Occasional (5-29%)HP:0000592

Unbalanced face

Occasional (5-29%)HP:0000324

Related Conditions

Phakomatosis cesioflammea(child)

Phakomatosis spilorosea(child)

Phakomatosis caesiomarmorata(child)

Port-wine stain with associated anomalies(parent)

Quick Facts

SNOMED CT: 403545005
UMLS CUI: C1274879
Fully Specified Name: Port-wine stain with oculocutaneous melanosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.