699256006: Timothy syndrome type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\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)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\...
• \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)
• \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\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (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\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (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)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital long QT syndrome (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Timothy syndrome type 1 (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Timothy syndrome type 1 (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Timothy syndrome type 1 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Timothy syndrome type 1 (disorder)
• \Disease\Developmental disorder\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
3654361000052116	Timothys syndrom typ 1	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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