Camptodactyly taurinuria syndrome

disorder

SNOMED 733466005CUI C4518792

Overview

Camptodactyly taurinuria syndrome 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.

Camptodactyly of feet

Very frequent (80-99%)HP:0001836

Increased levels of animo acids in urine

Very frequent (80-99%)HP:0003355

Increased urinary taurine

Very frequent (80-99%)HP:0003166

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Inherited aminoaciduria(parent)

Hereditary camptodactyly(parent)

Camptodactyly of finger(parent)

Quick Facts

SNOMED CT: 733466005
UMLS CUI: C4518792
Fully Specified Name: Camptodactyly taurinuria syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 4

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.