Hyperlysinuria with hyperammonemia

disorder

SNOMED 342553006CUI C0268555

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.

Dibasicaminoaciduria

HP:0003168

Growth failure

HP:0001510

High blood ammonia levels

HP:0001987

Hyperlysinemia

HP:0002161

Inactivity

HP:0001254

Intestinal malabsorption

HP:0002024

Lysinuria

HP:0003297

Mental-retardation

HP:0001249

Trance

HP:0001259

Related Conditions

Hyperlysinemia(parent)

Hyperammonemia(parent)

Quick Facts

SNOMED CT: 342553006
UMLS CUI: C0268555
Fully Specified Name: Periodic hyperlysinemia with hyperammonemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.