Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

disorder

SNOMED 30287008CUI C0268540

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.

Homocitrullinuria

Always present (100%)HP:0034464

Psychomotor development deficiency

Always present (100%)HP:0001263

Abnormal circulating citrulline concentration

Very frequent (80-99%)HP:0011965

Cognitive deficits

Very frequent (80-99%)HP:0100543

High blood ammonia levels

Very frequent (80-99%)HP:0001987

Hyperornithinemia

Very frequent (80-99%)HP:0012026

Increased reflexes

Very frequent (80-99%)HP:0001347

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Abnormal liver enzymes

Frequent (30-79%)HP:0002910

Acute encephalopathy

Frequent (30-79%)HP:0006846

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Clonus

Frequent (30-79%)HP:0002169

Confusion

Frequent (30-79%)HP:0001289

Corticospinal signs

Frequent (30-79%)HP:0007256

Dysdiadochokinesis

Frequent (30-79%)HP:0002075

Enlarged liver

Frequent (30-79%)HP:0002240

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hepatitis

Frequent (30-79%)HP:0012115

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Incoordination

Frequent (30-79%)HP:0002311

Instability or lack of coordination of central trunk muscles

Frequent (30-79%)HP:0002078

Liver dysfunction, mild

Frequent (30-79%)HP:0001410

Mental retardation, severe

Frequent (30-79%)HP:0010864

No development of motor milestones

Frequent (30-79%)HP:0001270

Oroticaciduria

Frequent (30-79%)HP:0003218

Poor school performance

Frequent (30-79%)HP:0001249

Poor weight gain

Frequent (30-79%)HP:0001508

Progressive cerebellar ataxia

Frequent (30-79%)HP:0002073

Related Conditions

Hyperammonemia(parent)

Disorder of ornithine metabolism(parent)

Hyperornithinemia(parent)

Inherited metabolic disorder of nervous system(parent)

Encephalomyeloneuropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 30287008
UMLS CUI: C0268540
Fully Specified Name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.