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Tryptophanuria with dwarfism

disorder
SNOMED 12045002CUI C0268473

Overview

Tryptophanuria with dwarfism 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.

Ataxia
HP:0001251
Cutaneous photosensitivity
HP:0000992
Gait disturbance
HP:0001288
High urine tryptophan levels
HP:0003361
Low intelligence
HP:0001249
Short stature, severe
HP:0003510
Small dilated blood vessels near membrane covering front of eye and eyelids
HP:0000524

Quick Facts

SNOMED CT
12045002
UMLS CUI
C0268473
Fully Specified Name
Tryptophanuria with dwarfism (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
7
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.