1230096008: Timothy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome

\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
\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
\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
\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
\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

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Timothy syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome

\Disease\Genetic disease\Timothy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Timothy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Timothy syndrome
\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
\Disease\Congenital disease\Congenital cardiovascular disorder\Timothy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Timothy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Timothy syndrome

Status: current, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5067138017 Timothy syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5067139013 Timothy syndrome en Synonym Active Case sensitive SNOMED CT core

5067140010 Long QT syndrome type 8 en Synonym Active Initial character case insensitive SNOMED CT core

5067141014 A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature with characteristics of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes; the classical types that present with a prolonged QT interval and either with (Timothy syndrome 1) or without (Timothy syndrome 2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease is due to mutations in the CACNA1C gene (12p13.33). The clinical phenotypes correlate with genotype. Most cases arise de novo however in some cases the disease has been identified as an inherited autosomal dominant trait resulting from parental germline mosaicism. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Timothy syndrome	Is a	Cardiac arrhythmia associated with genetic disorder	true	Inferred relationship	Some
Timothy syndrome	Is a	Congenital cardiovascular disorder	true	Inferred relationship	Some
Timothy syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Timothy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Timothy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Timothy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Timothy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Timothy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Timothy syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Atypical Timothy syndrome	Is a	True	Timothy syndrome	Inferred relationship	Some
Timothy syndrome type 1	Is a	True	Timothy syndrome	Inferred relationship	Some
Timothy syndrome type 2	Is a	True	Timothy syndrome	Inferred relationship	Some

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5067138017	Timothy syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5067139013	Timothy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5067140010	Long QT syndrome type 8	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5067141014	A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature with characteristics of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes; the classical types that present with a prolonged QT interval and either with (Timothy syndrome 1) or without (Timothy syndrome 2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease is due to mutations in the CACNA1C gene (12p13.33). The clinical phenotypes correlate with genotype. Most cases arise de novo however in some cases the disease has been identified as an inherited autosomal dominant trait resulting from parental germline mosaicism.	en	Definition	Active	Case sensitive	SNOMED CT core