Seizures and intellectual disability due to hydroxylysinuria

disorder

SNOMED 723994004CUI C4510221

Overview

Seizures and intellectual disability due to hydroxylysinuria 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.

Dull intelligence

Very frequent (80-99%)HP:0001249

Increased levels of animo acids in urine

Very frequent (80-99%)HP:0003355

Myoclonic epilepsy, progressive

Very frequent (80-99%)HP:0002123

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Disorder of lysine and hydroxylysine metabolism(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 723994004
UMLS CUI: C4510221
Fully Specified Name: Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 3

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.