717943008: Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

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

\Disorder of digit\Congenital anomaly of digit\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3324414019 Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3324415018 Brain malformation, congenital heart disease, postaxial polydactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3324416017 Goossens Devriendt syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Is a	Polydactyly	true	Inferred relationship	Existential restriction modifier
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	6
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	7
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier	7
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Associated morphology	Supernumerary structure	false	Inferred relationship	Existential restriction modifier	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3324414019	Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3324415018	Brain malformation, congenital heart disease, postaxial polydactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3324416017	Goossens Devriendt syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module