Dysmorphic sialidosis with renal involvement

disorder

SNOMED 81896006CUI C0268232

Overview

Dysmorphic sialidosis with renal involvement 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.

Ascites

HP:0001541

Deformity of face

HP:0001999

Kidney damage

HP:0000112

Laboratory abnormality

HP:0001939

Large vacuolated foam cells ('NP cells') on bone marrow biopsy

HP:0004333

Mental retardation, severe

HP:0010864

Nephrosis

HP:0000100

Pericardial effusions

HP:0001698

Renal failure in adulthood

HP:0000083

Skeletal anomalies

HP:0000924

Related Conditions

Dysmorphic sialidosis(parent)

Hereditary nephropathy(parent)

Metabolic renal disease(parent)

Quick Facts

SNOMED CT: 81896006
UMLS CUI: C0268232
Fully Specified Name: Dysmorphic sialidosis with renal involvement (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.