Acute neuronopathic Gaucher's disease

disorder

SNOMED 12246008CUI C0268250

Overview

By MedlinePlus, National Library of Medicine

NIH: National Institute of Neurological Disorders and Stroke Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cognitive delay

Always present (100%)HP:0001263

Undergrowth

Always present (100%)HP:0001508

Abnormal respiratory patterns

Very frequent (80-99%)HP:0002793

Deglutition disorder

Very frequent (80-99%)HP:0002015

Dystonic disease

Very frequent (80-99%)HP:0001332

Encephalopathy

Very frequent (80-99%)HP:0001298

Enlarged liver

Very frequent (80-99%)HP:0002240

Eye muscle paralysis

Very frequent (80-99%)HP:0000602

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Large spleen

Very frequent (80-99%)HP:0001744

Squint

Very frequent (80-99%)HP:0000486

Abnormal lung parenchyma morphology

Frequent (30-79%)HP:0006530

Apnea

Frequent (30-79%)HP:0002104

Arc de cercle

Frequent (30-79%)HP:0002179

Bronchiolitis

Frequent (30-79%)HP:0011950

Coughing

Frequent (30-79%)HP:0012735

Decreased lysosomal acid glucosylceramidase activity

Frequent (30-79%)HP:0003656

Defective or absent horizontal voluntary eye movements

Frequent (30-79%)HP:0000657

Double aortic arch

Frequent (30-79%)HP:0011590

Epilepsy

Frequent (30-79%)HP:0001250

Feeding difficulties

Frequent (30-79%)HP:0011968

Flexion contractures

Frequent (30-79%)HP:0001371

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Hypertonia

Frequent (30-79%)HP:0001276

Irritability

Frequent (30-79%)HP:0000737

Laboured breathing

Frequent (30-79%)HP:0002098

Laryngospasm

Frequent (30-79%)HP:0025425

Limited mouth opening

Frequent (30-79%)HP:0000211

Low number of red blood cells or haemoglobin

Frequent (30-79%)HP:0001903

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Gaucher's disease(parent)

Acute metabolic disorder(parent)

Acute nervous system disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 12246008
UMLS CUI: C0268250
Fully Specified Name: Acute neuronopathic Gaucher's disease (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.