Neonatal epileptic encephalopathy due to glutaminase deficiency

disorder

SNOMED 1222662000CUI C5193030

Overview

Neonatal epileptic encephalopathy due to glutaminase 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.

Central hypotonia

Always present (100%)HP:0001252

EEG with burst suppression

Always present (100%)HP:0010851

Epileptic encephalopathy

Always present (100%)HP:0200134

Respiratory insufficiency

Always present (100%)HP:0002093

Seizures

Always present (100%)HP:0001250

Cortical gyral simplification

Frequent (30-79%)HP:0009879

Demyelination in central white matter

Frequent (30-79%)HP:0007305

Excess astrocytes in brain

Frequent (30-79%)HP:0002171

Respiratory failure

Frequent (30-79%)HP:0002878

Periodic respiration

Occasional (5-29%)HP:0012196

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Disturbance of glutamine metabolism(parent)

Neonatal metabolic disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Central nervous system complication(parent)

Developmental hereditary disorder(parent)

DEE - developmental and epileptic encephalopathy(parent)

Quick Facts

SNOMED CT: 1222662000
UMLS CUI: C5193030
Fully Specified Name: Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.