Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ichthyosiform abnormality of the skin
Always present (100%)HP:0008064
Congenital lamellar ichthyosis
Very frequent (80-99%)HP:0007479
Everted eyelid
Very frequent (80-99%)HP:0000656
Palmoplantar keratosis
Very frequent (80-99%)HP:0000972
Congenital ichthyosiform erythroderma
Frequent (30-79%)HP:0007431
Hair loss
Frequent (30-79%)HP:0001596
Decreased hair growth
Occasional (5-29%)HP:0008070
Dystrophic nails
Occasional (5-29%)HP:0008404
Flexion contractures
Occasional (5-29%)HP:0001371
Nail dysplasia
Occasional (5-29%)HP:0002164
Desquamation of skin soon after birth
HP:0007549
Eclabium of lower lip
HP:0000232
Erythroderma
HP:0001019
Parakeratosis
HP:0001036
Thickening of upper layer of skin
HP:0025092
Related Conditions
Lamellar ichthyosis(child)
Ichthyosis congenita with biliary atresia(child)
Cutaneous syndrome with ichthyosis(child)
Ichthyosis vulgaris(child)
Severe ichthyoses(child)
Congenital non bullous ichthyosiform erythroderma(child)
Limb reduction-ichthyosis syndrome(child)
Sex-linked ichthyosis(child)
Follicular ichthyosis(child)
Autosomal dominant ichthyosis(child)
Autosomal recessive ichthyosis(child)
Rud's syndrome(child)
Osteosclerosis, ichthyosis, premature ovarian failure syndrome(child)
Keratinopathic ichthyosis(child)
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome(child)
Erythrokeratodermia variabilis(child)
Congenital ichthyosis, microcephalus, tetraplegia syndrome(child)
Genodermatosis(parent)
Ichthyosis(parent)
Inherited disorder of keratinization(parent)
Quick Facts
- SNOMED CT
- 13059002
- UMLS CUI
- C0020758
- Fully Specified Name
- Congenital ichthyosis of skin (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.