Chronic non-neuropathic Gaucher's disease

disorder

SNOMED 62201009CUI C0017205

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Alglucerase

substance

Imiglucerase

substance

Cycloserine

substance

Miglustat

substance

Velaglucerase alfa

substance

Taliglucerase alfa

substance

Eliglustat

substance

Eliglustat tartrate

substance

Signs & Symptoms

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

Elevated circulating glucosylsphingosine concentration

Always present (100%)HP:6001185

Breakdown of bone

Very frequent (80-99%)HP:0002797

Decreased lysosomal acid glucosylceramidase activity

Very frequent (80-99%)HP:0003656

Delayed puberty

Very frequent (80-99%)HP:0000823

Enlarged liver

Very frequent (80-99%)HP:0002240

Hypersplenism

Very frequent (80-99%)HP:0001971

Large spleen

Very frequent (80-99%)HP:0001744

Low number of red blood cells or haemoglobin

Very frequent (80-99%)HP:0001903

Osteoporosis

Very frequent (80-99%)HP:0000939

Refusing to eat

Very frequent (80-99%)HP:0002039

Retarded ossification

Very frequent (80-99%)HP:0002750

Tiredness

Very frequent (80-99%)HP:0012378

Very poor growth

Very frequent (80-99%)HP:0001510

Abnormal bone structure

Frequent (30-79%)HP:0003330

Abnormality of coagulation

Frequent (30-79%)HP:0001928

Abnormality of movement

Frequent (30-79%)HP:0100022

Arthralgias

Frequent (30-79%)HP:0002829

Ataxia

Frequent (30-79%)HP:0001251

Bone pain

Frequent (30-79%)HP:0002653

Bruising susceptibility

Frequent (30-79%)HP:0000978

Deglutition disorder

Frequent (30-79%)HP:0002015

Depressive episode

Frequent (30-79%)HP:0000716

Elevated circulating Angiotensin-converting enzyme concentration

Frequent (30-79%)HP:6000213

Erlenmeyer flask femora

Frequent (30-79%)HP:0004975

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Gallstones

Frequent (30-79%)HP:0001081

Gastro pain

Frequent (30-79%)HP:0002027

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Related Conditions

Chronic metabolic disease(parent)

Gaucher's disease(parent)

Quick Facts

SNOMED CT: 62201009
UMLS CUI: C0017205
Fully Specified Name: Chronic non-neuropathic Gaucher's disease (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 8

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.