Sialuria

disorder

SNOMED 238051008CUI C0342853

Overview

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

Signs & Symptoms

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

Increased urinary sialic acid

Always present (100%)HP:0410156

Abnormality of the mitochondrion

Very frequent (80-99%)HP:0012103

Childhood attention deficit/hyperactivity disorder

Very frequent (80-99%)HP:0007018

Coarse face

Very frequent (80-99%)HP:0000280

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Deficit in expressive language

Very frequent (80-99%)HP:0002474

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Dysostosis multiplex

Very frequent (80-99%)HP:0000943

Elevated serum transaminases

Very frequent (80-99%)HP:0002910

Enlarged liver

Very frequent (80-99%)HP:0002240

Epilepsy

Very frequent (80-99%)HP:0001250

Fullness around the eyes

Very frequent (80-99%)HP:0000629

Gallstones

Very frequent (80-99%)HP:0001081

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Hepatosplenomegaly

Very frequent (80-99%)HP:0001433

Husky voice

Very frequent (80-99%)HP:0001609

Hyperkinetic movements

Very frequent (80-99%)HP:0002487

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Intermittent abdominal pain

Very frequent (80-99%)HP:0002574

Joint instability

Very frequent (80-99%)HP:0001382

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Large halluces

Very frequent (80-99%)HP:0001847

Low factor II activity

Very frequent (80-99%)HP:0008151

Low-set ears

Very frequent (80-99%)HP:0000369

Memory loss

Very frequent (80-99%)HP:0002354

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Narrow, high-arched roof of mouth

Very frequent (80-99%)HP:0002705

Palpebronasal fold

Very frequent (80-99%)HP:0000286

partial or complete syndactyly 2nd-3rd toes

Very frequent (80-99%)HP:0004691

Related Conditions

Disorder of sialic acid metabolism(parent)

Quick Facts

SNOMED CT: 238051008
UMLS CUI: C0342853
Fully Specified Name: Sialuria (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.