Palmoplantar keratoderma with deafness syndrome

disorder

SNOMED 722203001CUI C1835672

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.

Epidermal hyperkeratosis

Very frequent (80-99%)HP:0000962

Keratoderma

Very frequent (80-99%)HP:0000982

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Hypoacusis

HP:0000365

Palmoplantar keratosis

HP:0000972

Related Conditions

Sensorineural hearing loss(parent)

Hereditary palmoplantar keratoderma(parent)

Dominant autosomal hereditary disorder, incomplete penetrance(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 722203001
UMLS CUI: C1835672
Fully Specified Name: Palmoplantar keratoderma with deafness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.