Overview
Galactosemia type 4 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.
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Hypergalactosemia
Very frequent (80-99%)HP:0012024
Impaired galactose metabolism
Very frequent (80-99%)HP:0004915
Cataract
Frequent (30-79%)HP:0000518
Jaundice, neonatal
Occasional (5-29%)HP:0006579
Liver dysfunction
Occasional (5-29%)HP:0001410
Slowed or blocked flow of bile from liver
Occasional (5-29%)HP:0001396
Abnormality of the nervous system
Very rare (1-4%)HP:0000707
Enlarged liver
Very rare (1-4%)HP:0002240
Infection in blood stream
Very rare (1-4%)HP:0100806
Poor weight gain
Very rare (1-4%)HP:0001508
Cognitive delay
Excluded (<1%)HP:0001263
Quick Facts
- SNOMED CT
- 1187616008
- UMLS CUI
- C5394377
- Fully Specified Name
- Deficiency of galactose mutarotase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 12
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.