770723007: syndrome d'atrophie optique-déficience intellectuelle (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...
• \maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability 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)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability 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)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Optic atrophy, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Optic atrophy, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702249014	Bosch Boonstra Schaaf optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702250014	BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702251013	Optic atrophy, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702252018	Optic atrophy, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769761000241111	syndrome d'atrophie optique-déficience intellectuelle (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
873521000172110	syndrome d'atrophie optique-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
906001000172116	BBSOAS - Bosch-Boonstra-Schaaf optic atrophy syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3702253011	A rare hereditary syndromic intellectual disability with characteristics of developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oro motor dysfunction, seizures and autism spectrum disorder. Dysmorphic facial features are variable and nonspecific. Caused by heterozygous mutation in the NR2F1 gene on chromosome 5q15.	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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