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Keratoderma hereditarium mutilans with ichthyosis syndrome
disorderSNOMED 717183001CUI C1858805
Overview
Keratoderma hereditarium mutilans with ichthyosis 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.
Amniotic constriction band
Always present (100%)HP:0009775
Digital constriction ring
Very frequent (80-99%)HP:0010491
Generalized ichthyosis
Very frequent (80-99%)HP:0007503
Palmoplantar keratosis
Very frequent (80-99%)HP:0000972
Congenital lamellar ichthyosis
Frequent (30-79%)HP:0007479
Dorsal dupuytren nodules
Frequent (30-79%)HP:0032541
Epidermal hyperkeratosis
Frequent (30-79%)HP:0000962
Honeycomb palmoplantar hyperkeratosis
Frequent (30-79%)HP:0007465
Hypergranulosis
Frequent (30-79%)HP:0025114
Keratoderma
Frequent (30-79%)HP:0000982
Parakeratosis
Frequent (30-79%)HP:0001036
Scaling skin on fingertip
Frequent (30-79%)HP:0025525
Dystrophic nails
Occasional (5-29%)HP:0008404
Dystrophic thickened nails
Occasional (5-29%)HP:0001805
Hair loss
Occasional (5-29%)HP:0001596
Orthokeratosis
Occasional (5-29%)HP:0040162
Thickening of upper layer of skin
Occasional (5-29%)HP:0025092
Abnormality of the nervous system
Very rare (1-4%)HP:0000707
Abnormal hair morphology
Excluded (<1%)HP:0001595
Quick Facts
- SNOMED CT
- 717183001
- UMLS CUI
- C1858805
- Fully Specified Name
- Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.