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Wolman's disease

disorder
SNOMED 82500001CUI C0043208

Overview

Wolman's disease 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.

Acute liver failure
Always present (100%)HP:0006554
Postnatal failure to thrive
Always present (100%)HP:0001508
Reduced lysosomal acid lipase activity
Always present (100%)HP:0031205
Vomiting
Always present (100%)HP:0002013
Adrenal calcification
Very frequent (80-99%)HP:0010512
Belly bloating
Very frequent (80-99%)HP:0003270
Cognitive delay
Very frequent (80-99%)HP:0001263
Enlarged liver
Very frequent (80-99%)HP:0002240
Fat in feces
Very frequent (80-99%)HP:0002570
Hepatic insufficiency
Very frequent (80-99%)HP:0001399
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Ascites
Frequent (30-79%)HP:0001541
Cachexia
Frequent (30-79%)HP:0004326
Decreased haemoglobin
Frequent (30-79%)HP:0001903
Large spleen
Frequent (30-79%)HP:0001744
Malnutrition
Frequent (30-79%)HP:0004395
Very poor growth
Frequent (30-79%)HP:0001510
Esophageal varix
Occasional (5-29%)HP:0002040
Hypoadrenalism
Occasional (5-29%)HP:0000846
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
Occasional (5-29%)HP:0004333
Pyrexia
Occasional (5-29%)HP:0001945

Quick Facts

SNOMED CT
82500001
UMLS CUI
C0043208
Fully Specified Name
Wolman's disease (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
21
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.