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Waardenburg syndrome type 2

disorder
SNOMED 1010636000CUI C2700265

Overview

Waardenburg syndrome type 2 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.

Deafness
Very frequent (80-99%)HP:0000365
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Premature graying of the hair
Very frequent (80-99%)HP:0002216
Heterochromia iridis
Frequent (30-79%)HP:0001100
Hypopigmented skin patches
Frequent (30-79%)HP:0001053
Poliosis of anterior hair
Frequent (30-79%)HP:0002211
Sensorineural deafness
Frequent (30-79%)HP:0000407
Abnormality of lung artery
Occasional (5-29%)HP:0004414
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Eyelid ptosis
Occasional (5-29%)HP:0000508
Increased intercanthal distance
Occasional (5-29%)HP:0000506
Renal anomalies
Occasional (5-29%)HP:0000077

Quick Facts

SNOMED CT
1010636000
UMLS CUI
C2700265
Fully Specified Name
Waardenburg syndrome type 2 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
12
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.