732251003: Cortical blindness, intellectual disability, polydactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Congenital anomaly of limb\Polymelia\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, polydactyly syndrome
• \Finding of head region\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disorder of head\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, 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\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3464789019	Cortical blindness, intellectual disability, polydactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3464790011	Cortical blindness, intellectual disability, polydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3464791010	Syndrome with characteristics of cortical blindness, intellectual deficit and polydactyly. This combination was found in three children of first-cousin parents. The facial features included prominent forehead, short nose, long philtrum and microretrognathia. Two of the three children died of acute gastroenteritis. Growth and psychomotor development were severely delayed.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start