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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Congenital anomaly of limb\Polymelia\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \Finding of head region\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disorder of visual pathways (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3464790011	Cortical blindness, intellectual disability, polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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