Timothy syndrome

disorder

SNOMED 1230096008CUI C1832916

Overview

Timothy 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.

Cutaneous syndactyly of digits

Always present (100%)HP:0012725

Long Q-T syndrome

Always present (100%)HP:0001657

Prolonged QTc interval

Always present (100%)HP:0005184

Small teeth

Always present (100%)HP:0000691

Atrioventricular nodal disease

Very frequent (80-99%)HP:0001678

Bradycardia

Very frequent (80-99%)HP:0001662

Autism

Frequent (30-79%)HP:0000717

Central hypotonia

Frequent (30-79%)HP:0001252

Increased heart size

Frequent (30-79%)HP:0001640

Low blood calcium levels

Frequent (30-79%)HP:0002901

Low blood sugar

Frequent (30-79%)HP:0001943

PDA

Frequent (30-79%)HP:0001643

Predisposition to infections

Frequent (30-79%)HP:0002719

Ventricular tachycardia

Frequent (30-79%)HP:0004756

2 vessel cord

Occasional (5-29%)HP:0001195

Bronchitis

Occasional (5-29%)HP:0012387

Cognitive delay

Occasional (5-29%)HP:0001263

Epilepsy

Occasional (5-29%)HP:0001250

Hypothermia

Occasional (5-29%)HP:0002045

Hypothyroidism

Occasional (5-29%)HP:0000821

Mental-retardation

Occasional (5-29%)HP:0001249

PFO

Occasional (5-29%)HP:0001655

Pneumonia

Occasional (5-29%)HP:0002090

Pulmonary artery hypertension

Occasional (5-29%)HP:0002092

Sinus bradycardia

Occasional (5-29%)HP:0001688

Sudden cardiac arrest

Occasional (5-29%)HP:0031628

Sudden cardiac death

Occasional (5-29%)HP:0001645

Syncope

Occasional (5-29%)HP:0001279

Tetrology of fallot

Occasional (5-29%)HP:0001636

Ventricular fibrillation

Occasional (5-29%)HP:0001663

Related Conditions

Atypical long QT syndrome type 8(child)

Long QT syndrome with syndactyly(child)

Timothy syndrome type 2(child)

Cardiac arrhythmia associated with genetic disorder(parent)

Congenital cardiovascular disorder(parent)

Genetic disease(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 1230096008
UMLS CUI: C1832916
Fully Specified Name: Timothy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.