Citrullinaemia

disorder

SNOMED 398680004CUI C0175683

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.

Elevated plasma citrulline

Always present (100%)HP:0011966

High plasma glutamine

Always present (100%)HP:0003217

Oroticaciduria

Always present (100%)HP:0003218

Reduced hepatic argininosuccinate synthetase activity

Always present (100%)HP:6000353

Cerebral vascular events

Occasional (5-29%)HP:0001297

Ataxia

HP:0001251

Cerebral oedema

HP:0002181

Cirrhosis

HP:0001394

Cognitive delay

HP:0001263

Coma

HP:0001259

Enlarged liver

HP:0002240

Epilepsy

HP:0001250

Episodic ammonia intoxication

HP:0001951

High blood ammonia levels

HP:0001987

Hypoargininemia

HP:0005961

Inactivity

HP:0001254

Irritable mood

HP:0000737

Poor school performance

HP:0001249

Postnatal failure to thrive

HP:0001508

Protein avoidance

HP:0002038

Respiratory alkalosis

HP:0001950

Vomiting

HP:0002013

Related Conditions

Citrullinemia, neonatal type(child)

Citrullinemia, subacute type(child)

Citrin deficiency(child)

Citrullinaemia type 1(child)

Enzymopathy(parent)

Aminoacidemia(parent)

Disorder of the urea cycle metabolism(parent)

Hereditary metabolic disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 398680004
UMLS CUI: C0175683
Fully Specified Name: Citrullinemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.