Ichthyosis, cerebellar degeneration and hepatosplenomegaly

disorder

SNOMED 403779009CUI C1275088

Overview

Ichthyosis, cerebellar degeneration and hepatosplenomegaly 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.

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Ataxia

Very frequent (80-99%)HP:0001251

Enlarged liver

Very frequent (80-99%)HP:0002240

Gait disturbance

Very frequent (80-99%)HP:0001288

Hyporeflexia

Very frequent (80-99%)HP:0001265

Ichthyosiform abnormality of the skin

Very frequent (80-99%)HP:0008064

Large spleen

Very frequent (80-99%)HP:0001744

Progressive dementia

Very frequent (80-99%)HP:0000726

Difficulty articulating speech

HP:0001260

Hepatosplenomegaly

HP:0001433

Related Conditions

Cutaneous syndrome with ichthyosis(parent)

Quick Facts

SNOMED CT: 403779009
UMLS CUI: C1275088
Fully Specified Name: Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.