422348008: Andersen Tawil 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.\...

\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome

\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\Familial long QT syndrome\Andersen Tawil syndrome

\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.\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Familial long QT syndrome\Andersen Tawil syndrome

\Finding of movement\Movement disorder\Andersen Tawil syndrome
\Finding of movement\Motor dysfunction\Paralysis (finding)\Periodic paralysis (finding)\Andersen Tawil syndrome

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Andersen Tawil syndrome

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Andersen Tawil syndrome

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Andersen Tawil syndrome

\Disorder of skeletal muscle\Andersen Tawil syndrome

\Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Periodic paralysis (finding)\Andersen Tawil syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Andersen Tawil syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Familial long QT syndrome\Andersen Tawil syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Familial long QT syndrome\Andersen Tawil syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Andersen Tawil syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Andersen Tawil syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Familial long QT syndrome\Andersen Tawil syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Familial long QT syndrome\Andersen Tawil syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Familial long QT syndrome\Andersen Tawil syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Familial long QT syndrome\Andersen Tawil syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Andersen Tawil syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Andersen Tawil syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Andersen Tawil syndrome
\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.\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome\Andersen Tawil syndrome
\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.\Familial long QT syndrome\Andersen Tawil syndrome
\Disease\Movement disorder\Andersen Tawil syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Andersen Tawil syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Andersen Tawil syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Cardiovascular system hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Conduction disorder of the heart	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Finding site	Cardiac conducting system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Structural disorder of heart	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Andersen Tawil syndrome	Finding site	Cardiac conducting system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Andersen Tawil syndrome	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Andersen Tawil syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Andersen Tawil syndrome	Is a	Long QT syndrome with genetic marker	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Congenital heart disease (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Andersen Tawil syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Andersen Tawil syndrome	Finding site	Cardiac conducting system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Andersen Tawil syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Andersen Tawil syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Andersen Tawil syndrome	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Andersen Tawil syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Andersen Tawil syndrome	Finding site	Cardiac conducting system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Andersen Tawil syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Andersen Tawil syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Andersen Tawil syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Andersen Tawil syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Andersen Tawil syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Andersen Tawil syndrome	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Andersen Tawil syndrome	Is a	Familial long QT syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Periodic paralysis (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Movement disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Andersen Tawil syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Andersen Tawil syndrome	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Andersen Tawil syndrome	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Andersen Tawil syndrome	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
2615429018	Andersen Tawil syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2618098014	Andersen Tawil syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2985437015	Andersen cardiodysrhythmic periodic paralysis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2985563011	Long QT syndrome 7	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2615429018	Andersen Tawil syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2618098014	Andersen Tawil syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2985437015	Andersen cardiodysrhythmic periodic paralysis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2985563011	Long QT syndrome 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2985563011	Long QT syndrome 7	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3433461001000116	Andersen-Tawil-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5642321000241113	syndrome du QT long type 7	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5642331000241110	syndrome d'Andersen Tawil	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5642321000241113	syndrome du QT long type 7	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5642331000241110	syndrome d'Andersen Tawil	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433461001000116	Andersen-Tawil-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module