Hyperornithinemia

disorder

SNOMED 33985005CUI C0599035

Overview

Hyperornithinemia 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.

Chorioretinal atrophy

Always present (100%)HP:0000533

Foveoschisis

Always present (100%)HP:0012152

Hyperornithinemia

Always present (100%)HP:0012026

Impaired vision

Always present (100%)HP:0000505

Macular thickening

Always present (100%)HP:0030498

Night blindness

Always present (100%)HP:0000662

Abnormal electromyography finding

HP:0003457

Blindness

HP:0000618

Near sighted

HP:0000545

Posterior subcapsular cataracts

HP:0007787

Proximal neurogenic muscle weakness

HP:0003701

Related Conditions

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome(child)

Aminoacidemia(parent)

Disorder of the urea cycle metabolism(parent)

Quick Facts

SNOMED CT: 33985005
UMLS CUI: C0599035
Fully Specified Name: Hyperornithinemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.