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\Disorder of cardiovascular system\Congenital cardiovascular disorder\Timothy syndrome\Timothy syndrome type 2
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Cardiovascular finding\Disorder of cardiovascular system\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\Disorder of cardiovascular system\Congenital cardiovascular disorder\Timothy syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Cardiac arrhythmia\Cardiac channelopathy\Long QT syndrome\Congenital long QT syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome\Timothy syndrome type 2
\Disease\Disorder of body system\Disorder of cardiovascular system\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 malformation\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Timothy syndrome\Timothy syndrome type 2

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

Descriptions:

Id Description Lang Type Status Case? Module

3318417016 Timothy syndrome type 2 (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3318418014 Timothy syndrome type 2 en Synonym Active Entire term case sensitive SNOMED CT core module
3318420012 Timothy syndrome atypical type en Synonym Inactive Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets