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3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency
disorderSNOMED 725286002CUI C4510940
Overview
3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency 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.
Laboratory abnormality
Very frequent (80-99%)HP:0001939
Low blood sugar
Very frequent (80-99%)HP:0001943
Seizures
Very frequent (80-99%)HP:0001250
Quick Facts
- SNOMED CT
- 725286002
- UMLS CUI
- C4510940
- Fully Specified Name
- Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (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.