Hypermethioninemia due to deficiency of glycine N-methyltransferase

disorder

SNOMED 763720007CUI C1847720

Overview

Hypermethioninemia due to deficiency of glycine N-methyltransferase 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 liver function tests

HP:0002910

Enlarged liver

HP:0002240

Increased methionine in blood

HP:0003235

Related Conditions

Hypermethioninemia(parent)

Congenital disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 763720007
UMLS CUI: C1847720
Fully Specified Name: Hypermethioninemia due to deficiency of glycine N-methyltransferase (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.