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\Encephalopathy\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\Encephalopathy\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\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\Encephalopathy\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\Cardiovascular 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
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\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\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly 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\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Disease\Disorder of body system\Cardiovascular disease\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\Encephalopathy\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Brain malformation, congenital heart disease, postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\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 anomaly\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, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324414019	Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324415018	Brain malformation, congenital heart disease, postaxial polydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324416017	Goossens Devriendt syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324417014	Goossens-Devriendt syndrome has characteristics of intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, brain malformation, abnormal hair with temporal balding and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

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