Cystathioninuria

disorder

SNOMED 13003007CUI C0220993

Overview

Cystathioninuria 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.

High urine cystathionine levels

Always present (100%)HP:0003153

Cystathioninemia

Frequent (30-79%)HP:0003286

Epilepsy

Frequent (30-79%)HP:0001250

Low intelligence

Frequent (30-79%)HP:0001249

Dysplastic ears

Occasional (5-29%)HP:0000377

Fetal foot inversion

Occasional (5-29%)HP:0001762

Kidney stones

Occasional (5-29%)HP:0000787

Tremor

Occasional (5-29%)HP:0001337

Related Conditions

Disorder of sulphur-bearing amino acid metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Inborn error of amino acid metabolism(parent)

Quick Facts

SNOMED CT: 13003007
UMLS CUI: C0220993
Fully Specified Name: Cystathioninuria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.