Congenital non bullous ichthyosiform erythroderma

disorder

SNOMED 267372009CUI C0079154

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.

Everted eyelid

Very frequent (80-99%)HP:0000656

Hypohidrosis

Very frequent (80-99%)HP:0000966

Ichthyosiform abnormality of the skin

Very frequent (80-99%)HP:0008064

Red scaly skin caused by inflammatory skin disease

Very frequent (80-99%)HP:0001019

Skin itching

Very frequent (80-99%)HP:0000989

Abnormal nail morphology

Frequent (30-79%)HP:0001597

Corneal erosion

Frequent (30-79%)HP:0200020

Corneal inflammation

Frequent (30-79%)HP:0000491

Hair loss

Frequent (30-79%)HP:0001596

Hearing impairment

Frequent (30-79%)HP:0000365

Keratoderma

Frequent (30-79%)HP:0000982

Undergrowth

Frequent (30-79%)HP:0001508

Decreased body height

Occasional (5-29%)HP:0004322

Related Conditions

Erythrodermic lamellar ichthyosis(child)

Non-erythrodermic lamellar ichthyosis(child)

Autosomal dominant lamellar ichthyosis(child)

Congenital ichthyosis of skin(parent)

Quick Facts

SNOMED CT: 267372009
UMLS CUI: C0079154
Fully Specified Name: Congenital non bullous ichthyosiform erythroderma (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.