1230097004: Atypical Timothy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (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\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (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\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (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\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (disorder)

\Disease\Genetic disease\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Timothy syndrome\Atypical Timothy syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Timothy syndrome\Atypical Timothy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5067143012 Atypical Timothy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5067144018 Atypical Timothy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5067147013 Timothy syndrome atypical type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5067142019 Atypical long QT syndrome type 8 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5067143012 Atypical Timothy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5067144018 Atypical Timothy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5067147013 Timothy syndrome atypical type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Atypical Timothy syndrome (disorder)	Is a	Timothy syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Atypical Timothy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atypical Timothy syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atypical Timothy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atypical Timothy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atypical Timothy syndrome (disorder)	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atypical Timothy syndrome (disorder)	Finding site	Cardiac conducting system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5067142019	Atypical long QT syndrome type 8	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5067143012	Atypical Timothy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5067144018	Atypical Timothy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5067147013	Timothy syndrome atypical type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5067142019	Atypical long QT syndrome type 8	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5067143012	Atypical Timothy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5067144018	Atypical Timothy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5067147013	Timothy syndrome atypical type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core