719907006: Timothy syndrome type 2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Cardiac arrhythmia\...

\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2

\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Timothy syndrome\Timothy syndrome type 2
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2

\Disease\Genetic disease\Timothy syndrome\Timothy syndrome type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Timothy syndrome type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Timothy syndrome type 2
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Timothy syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Congenital disease\Congenital cardiovascular disorder\Timothy syndrome\Timothy syndrome type 2
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Timothy syndrome\Timothy syndrome type 2
\Disease\Developmental disorder\Developmental hereditary disorder\Timothy syndrome type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Timothy syndrome\Timothy syndrome type 2

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3318418014 Timothy syndrome type 2 en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Timothy syndrome type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Timothy syndrome type 2	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Timothy syndrome type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Timothy syndrome type 2	Is a	Multiple malformation syndrome with limb defect as major feature	false	Inferred relationship	Some
Timothy syndrome type 2	Is a	Congenital cardiovascular disorder	false	Inferred relationship	Some
Timothy syndrome type 2	Finding site	Digit structure	false	Inferred relationship	Some	1
Timothy syndrome type 2	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	1
Timothy syndrome type 2	Is a	Syndactyly	false	Inferred relationship	Some
Timothy syndrome type 2	Is a	Congenital long QT syndrome	true	Inferred relationship	Some
Timothy syndrome type 2	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Timothy syndrome type 2	Is a	Timothy syndrome	true	Inferred relationship	Some
Timothy syndrome type 2	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Timothy syndrome type 2	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
Timothy syndrome type 2	Is a	Cardiovascular system hereditary disorder	false	Inferred relationship	Some
Timothy syndrome type 2	Is a	Long QT syndrome with genetic marker	false	Inferred relationship	Some
Timothy syndrome type 2	Finding site	Structure of heart	true	Inferred relationship	Some	2
Timothy syndrome type 2	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Timothy syndrome type 2	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318417016	Timothy syndrome type 2 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3318418014	Timothy syndrome type 2	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core