Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome

disorder

SNOMED 722035007CUI C1836330

Overview

Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma 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.

Diarrhea

Always present (100%)HP:0002014

High forehead

Always present (100%)HP:0000348

Increased plasma levels of very long-chain fatty acid

Always present (100%)HP:0033643

Abnormality of the intestine

Very frequent (80-99%)HP:0002242

Cognitive delay

Very frequent (80-99%)HP:0001263

Epidermal hyperkeratosis

Very frequent (80-99%)HP:0000962

Ichthyosiform abnormality of the skin

Very frequent (80-99%)HP:0008064

Mental deficiency

Very frequent (80-99%)HP:0001249

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Neuropathy

Very frequent (80-99%)HP:0009830

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Cirrhosis

Frequent (30-79%)HP:0001394

Erythema

Frequent (30-79%)HP:0010783

Hypoceruloplasminemia

Frequent (30-79%)HP:0010837

Impaired release of bile from liver

Frequent (30-79%)HP:0001406

Lens opacities

Frequent (30-79%)HP:0000518

Mongoloid slant

Frequent (30-79%)HP:0000582

Reduced serum copper

Frequent (30-79%)HP:0011967

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Jejunal atresia

Occasional (5-29%)HP:0005235

Liver fibrosis

Occasional (5-29%)HP:0001395

Microcolon on contrast enema

Occasional (5-29%)HP:0004388

Volvulus

Occasional (5-29%)HP:0002580

Retarded growth

HP:0001510

Related Conditions

Hearing loss associated with syndrome(parent)

Autosomal recessive ichthyosis(parent)

Congenital keratoderma(parent)

Sensorineural hearing loss(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 722035007
UMLS CUI: C1836330
Fully Specified Name: Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.