1230096008: Timothy syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\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\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\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\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\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\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)

\Disease\Genetic disease\Timothy syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Timothy syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Timothy syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Timothy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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

5067138017 Timothy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5067139013 Timothy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5067140010 Long QT syndrome type 8 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

13755751000172116 lang-QT-intervalsyndroom type 8 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13755761000172119 lang-QT-syndroom type 8 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13755771000172111 LQTS type 8 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

13755781000172114 syndroom van Timothy nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13755791000172112 Timothy-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5067138017	Timothy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5067139013	Timothy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5067140010	Long QT syndrome type 8	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13755751000172116	lang-QT-intervalsyndroom type 8	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13755761000172119	lang-QT-syndroom type 8	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13755771000172111	LQTS type 8	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
13755781000172114	syndroom van Timothy	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13755791000172112	Timothy-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)