Congenital reticular ichthyosiform erythroderma

disorder

SNOMED 703504006CUI C3665704

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.

Decreased body height

Always present (100%)HP:0004322

Decreased body weight

Always present (100%)HP:0004325

Ichthyosiform abnormality of the skin

Always present (100%)HP:0008064

Increased hair growth on body

Always present (100%)HP:0000998

Red scaly skin caused by inflammatory skin disease

Always present (100%)HP:0001019

Scaling skin

Always present (100%)HP:0040189

Hypoplastic nipples

Very frequent (80-99%)HP:0002557

Congenital lamellar ichthyosis

Frequent (30-79%)HP:0007479

Everted eyelid

Frequent (30-79%)HP:0000656

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Palmoplantar keratosis

Frequent (30-79%)HP:0000972

Skin itching

Frequent (30-79%)HP:0000989

Squint

Frequent (30-79%)HP:0000486

Digital clubbing

Excluded (<1%)HP:0001217

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital ichthyosiform erythroderma(parent)

Quick Facts

SNOMED CT: 703504006
UMLS CUI: C3665704
Fully Specified Name: Congenital reticular ichthyosiform erythroderma (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.