Overview
Carnosinaemia 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.
Generalized myoclonic seizure
HP:0002123
High urine carnosine levels
HP:0003167
Poor school performance
HP:0001249
Related Conditions
Quick Facts
- SNOMED CT
- 410052008
- UMLS CUI
- C3495555
- Fully Specified Name
- Carnosinemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 3
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.