Gaucher disease with ophthalmoplegia and cardiovascular calcification

disorder

SNOMED 1156813002CUI C2931585

Overview

Gaucher disease with ophthalmoplegia and cardiovascular calcification 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.

Aortic valve calcification

Frequent (30-79%)HP:0004380

Calcification of the aorta

Frequent (30-79%)HP:0004963

Decreased lysosomal acid glucosylceramidase activity

Frequent (30-79%)HP:0003656

Elevated circulating glucosylsphingosine concentration

Frequent (30-79%)HP:6001185

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Mitral valve calcification

Frequent (30-79%)HP:0004382

Scarring or clouding of the cornea of the eye

Frequent (30-79%)HP:0007957

Thrombocytopenia

Frequent (30-79%)HP:0001873

Aortic stenosis

Occasional (5-29%)HP:0001650

Cavus foot

Occasional (5-29%)HP:0001761

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Defective or absent horizontal voluntary eye movements

Occasional (5-29%)HP:0000657

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Epilepsy

Occasional (5-29%)HP:0001250

Eye muscle paralysis

Occasional (5-29%)HP:0000602

Gait disturbance

Occasional (5-29%)HP:0001288

Growth failure

Occasional (5-29%)HP:0001510

Headache

Occasional (5-29%)HP:0002315

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Hyporeflexia

Occasional (5-29%)HP:0001265

Increased reflexes

Occasional (5-29%)HP:0001347

Large spleen

Occasional (5-29%)HP:0001744

Lateral deviation of halluces

Occasional (5-29%)HP:0001822

Low number of red blood cells or haemoglobin

Occasional (5-29%)HP:0001903

Mitral regurgitation, mild

Occasional (5-29%)HP:0001653

Mitral valve stenosis

Occasional (5-29%)HP:0001718

Nonsyndromal hydrocephalus

Occasional (5-29%)HP:0000238

Pancytopenia

Occasional (5-29%)HP:0001876

Poor school performance

Occasional (5-29%)HP:0001249

Pulmonary fibrosis

Occasional (5-29%)HP:0002206

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Subacute neuronopathic Gaucher's disease(parent)

Quick Facts

SNOMED CT: 1156813002
UMLS CUI: C2931585
Fully Specified Name: Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.