724066002: Polysyndactyly and cardiac malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\...

\Syndactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome

\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polysyndactyly and cardiac malformation syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation 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\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Polysyndactyly and cardiac malformation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Polysyndactyly and cardiac malformation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Polysyndactyly and cardiac malformation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Polysyndactyly and cardiac malformation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3429754015 Polysyndactyly and cardiac malformation syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3429755019 Polysyndactyly and cardiac malformation syndrome en Synonym Active Case insensitive SNOMED CT core

3429756018 Bonneau syndrome en Synonym Active Case sensitive SNOMED CT core

3429757010 Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polysyndactyly and cardiac malformation syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome	Is a	Polysyndactyly	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome	Finding site	Structure of heart	false	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome	Finding site	Digit structure	true	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome	Finding site	Digit structure	false	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3429754015	Polysyndactyly and cardiac malformation syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3429755019	Polysyndactyly and cardiac malformation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3429756018	Bonneau syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3429757010	Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).	en	Definition	Active	Case sensitive	SNOMED CT core