720605009: Cardiac anomaly and heterotaxy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Viscus structure finding\Situs ambiguus\Cardiac anomaly and heterotaxy syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Cardiac anomaly and heterotaxy syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cardiac anomaly and heterotaxy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cardiac anomaly and heterotaxy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Congenital disease\Congenital anomaly\Situs ambiguus\Cardiac anomaly and heterotaxy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cardiac anomaly and heterotaxy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome
\Disease\Developmental disorder\Congenital anomaly\Situs ambiguus\Cardiac anomaly and heterotaxy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiac anomaly and heterotaxy syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321517012 Cardiac anomaly and heterotaxy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321518019 Cardiac anomaly and heterotaxy syndrome en Synonym Active Case insensitive SNOMED CT core

3321519010 This syndrome has characteristics of non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cardiac anomaly and heterotaxy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Cardiac anomaly and heterotaxy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cardiac anomaly and heterotaxy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cardiac anomaly and heterotaxy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Cardiac anomaly and heterotaxy syndrome	Finding site	Structure of viscus	true	Inferred relationship	Some	2
Cardiac anomaly and heterotaxy syndrome	Associated morphology	Malposition	true	Inferred relationship	Some	2
Cardiac anomaly and heterotaxy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cardiac anomaly and heterotaxy syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cardiac anomaly and heterotaxy syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Cardiac anomaly and heterotaxy syndrome	Is a	Situs ambiguus	true	Inferred relationship	Some
Cardiac anomaly and heterotaxy syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Cardiac anomaly and heterotaxy syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Cardiac anomaly and heterotaxy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cardiac anomaly and heterotaxy syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3321517012	Cardiac anomaly and heterotaxy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321518019	Cardiac anomaly and heterotaxy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321519010	This syndrome has characteristics of non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.	en	Definition	Active	Case sensitive	SNOMED CT core