771336003: polymicrogyrie avec hypoplasie du nerf optique (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Polymicrogyria with optic nerve hypoplasia
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \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\Polymicrogyria with optic nerve hypoplasia
• \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\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Polymicrogyria with optic nerve hypoplasia
• \Disease\trouble du développement\Developmental hereditary disorder\Polymicrogyria with optic nerve hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\microgyrie (trouble)\Bilateral polymicrogyria (disorder)\Polymicrogyria with optic nerve hypoplasia

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
3705808010	Polymicrogyria with optic nerve hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705809019	Polymicrogyria with optic nerve hypoplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
770601000241119	polymicrogyrie avec hypoplasie du nerf optique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
938631000172112	polymicrogyrie avec hypoplasie du nerf optique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3705810012	A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11.	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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