719907006: Timothy syndrome type 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\...
• \Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Genetic disease\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Timothy syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome\Timothy syndrome type 2 (disorder)
• \Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Timothy syndrome type 2 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Timothy syndrome (disorder)\Timothy syndrome type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318417016	Timothy syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318418014	Timothy syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318419018	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. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2157131000172117	syndrome de Timothy de type 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2157141000172112	atypisch syndroom van Timothy	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2157151000172114	syndroom van Timothy type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2157161000172111	Timothy-syndroom type 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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