699256006: Timothy syndrome type 1 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\...
• \Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Timothy syndrome type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Timothy syndrome type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Timothy syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Timothy syndrome type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2983304019	Long QT syndrome with syndactyly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2983535012	Timothy syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983538014	Timothy syndrome classic type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983544013	Timothy syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318416013	Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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