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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Head finding (finding)\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)
• \Head finding (finding)\Finding of head region\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\...
• \Disorder of digit\Congenital anomaly of digit\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\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)
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Developmental disorder (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\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Developmental disorder (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\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\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\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\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
5403621010	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403622015	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5403621010	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403622015	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440601001000111	Kortikale Blindheit-Intelligenzminderung-Polydaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5876161000241113	syndrome de cécité corticale, déficience intellectuelle et polydactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5876161000241113	syndrome de cécité corticale, déficience intellectuelle et polydactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440601001000111	Kortikale Blindheit-Intelligenzminderung-Polydaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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