Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Erythroderma
Very frequent (80-99%)HP:0001019
Everted eyelid
Very frequent (80-99%)HP:0000656
Hypotrichosis
Very frequent (80-99%)HP:0008070
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Lack of skin elasticity
Very frequent (80-99%)HP:0100679
Nail disease
Very frequent (80-99%)HP:0001597
Skin itching
Very frequent (80-99%)HP:0000989
Sparse to absent eyebrows
Very frequent (80-99%)HP:0100840
Xerosis
Very frequent (80-99%)HP:0000958
Helix abnormal
Frequent (30-79%)HP:0011039
Protruding lower lip
Frequent (30-79%)HP:0000232
Chronic ear infection
Occasional (5-29%)HP:0000389
Cognitive deficits
Occasional (5-29%)HP:0100543
Death of body tissue due to lack of blood flow or infection
Occasional (5-29%)HP:0100758
Decreased body height
Occasional (5-29%)HP:0004322
Dehydration
Occasional (5-29%)HP:0001944
Dental anomalies
Occasional (5-29%)HP:0000164
Infection in blood stream
Occasional (5-29%)HP:0100806
Renal failure in adulthood
Occasional (5-29%)HP:0000083
respiratory infections, recurrent
Occasional (5-29%)HP:0002205
Related Conditions
Erythrodermic lamellar ichthyosis(child)
Non-erythrodermic lamellar ichthyosis(child)
Autosomal dominant lamellar ichthyosis(child)
Lamellar ichthyosis (limited type)(child)
Self-healing collodion baby(child)
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome(child)
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome(child)
Congenital ichthyosis of skin(parent)
Quick Facts
- SNOMED CT
- 205550003
- UMLS CUI
- C5848247
- Fully Specified Name
- Lamellar ichthyosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.