Transient neonatal hyperglycinemia

disorder

SNOMED 51097006CUI C0268560

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absence of corpus callosum

HP:0001274

Encephalopathy

HP:0001298

Epilepsy

HP:0001250

Generalised decreased muscle tone

HP:0001290

Hyperactive behaviour

HP:0000752

Hyperglycinemia

HP:0002154

Hyperglycinuria

HP:0003108

Hyporeflexia

HP:0001265

Impulsivity

HP:0100710

Inactivity

HP:0001254

Increased reflexes

HP:0001347

Irritable mood

HP:0000737

Jerking

HP:0001336

Mental-retardation

HP:0001249

Peripheral hypotonia

HP:0001252

physical aggression

HP:0000718

Recurrent hiccough

HP:0100247

Restlessness

HP:0000711

Related Conditions

Hyperglycinemia(parent)

Neonatal metabolic acidemia(parent)

Neonatal transient metabolic disturbance(parent)

Quick Facts

SNOMED CT: 51097006
UMLS CUI: C0268560
Fully Specified Name: Transient neonatal hyperglycinemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.