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Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
disorderSNOMED 719835006CUI C1854063
Overview
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome 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.
Acantholysis
Always present (100%)HP:0100792
Fragile skin
Always present (100%)HP:0001030
Keratoderma
Always present (100%)HP:0000982
Skin bullae
Always present (100%)HP:0008066
Kinky hair texture
Very frequent (80-99%)HP:0002224
Patchy palmoplantar keratoderma
Very frequent (80-99%)HP:0005588
Stretched and thinned heart muscle
Very frequent (80-99%)HP:0001644
Dystrophic nails
Frequent (30-79%)HP:0008404
Hair loss
Frequent (30-79%)HP:0001596
Palmoplantar erythema
Frequent (30-79%)HP:0025493
Palmoplantar keratosis
Frequent (30-79%)HP:0000972
Palmoplantar psoriasis
Frequent (30-79%)HP:0025524
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Sparse eyebrow
Frequent (30-79%)HP:0045075
Thin eyelashes
Frequent (30-79%)HP:0000653
Chronic heart failure
Occasional (5-29%)HP:0001635
Ventricular tachycardia
Occasional (5-29%)HP:0004756
Cardiomyocyte hypertrophy
HP:0031319
Cardiovascular disease
Excluded (<1%)HP:0001626
Clubbing of fingers
HP:0100759
Dental agenesis
HP:0009804
Soft tissue swelling
HP:0000969
Quick Facts
- SNOMED CT
- 719835006
- UMLS CUI
- C1854063
- Fully Specified Name
- Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.