1230097004: Atypical 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\Atypical 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\Atypical 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\Atypical 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\Atypical 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\Atypical 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\Atypical Timothy syndrome

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

5067142019 Atypical long QT syndrome type 8 en Synonym Active Initial character case insensitive SNOMED CT core

5067143012 Atypical Timothy syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

5067144018 Atypical Timothy syndrome en Synonym Active Initial character case insensitive SNOMED CT core

5067147013 Timothy syndrome atypical type en Synonym Active Case sensitive SNOMED CT core

5067145017 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. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognized by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns. en Definition Active Case sensitive SNOMED CT core

5067146016 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. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognised by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Atypical Timothy syndrome	Is a	Timothy syndrome	true	Inferred relationship	Some
Atypical Timothy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Atypical Timothy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Atypical Timothy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Atypical Timothy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Atypical Timothy syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5067142019	Atypical long QT syndrome type 8	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5067143012	Atypical Timothy syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5067144018	Atypical Timothy syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5067147013	Timothy syndrome atypical type	en	Synonym	Active	Case sensitive	SNOMED CT core
5067145017	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. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognized by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns.	en	Definition	Active	Case sensitive	SNOMED CT core
5067146016	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. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognised by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns.	en	Definition	Active	Case sensitive	SNOMED CT core