771336003: Polymicrogyria with optic nerve hypoplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Polymicrogyria with optic nerve hypoplasia
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Eye / vision finding\Visual system disorder\...
• \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 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
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Polymicrogyria with optic nerve hypoplasia
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Polymicrogyria with optic nerve hypoplasia
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Polymicrogyria with optic nerve hypoplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polymicrogyria with optic nerve hypoplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological 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\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Polymicrogyria with optic nerve hypoplasia
• \Disease\Developmental disorder\Developmental hereditary disorder\Polymicrogyria with optic nerve hypoplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Polymicrogyria with optic nerve hypoplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Developmental disorder\Congenital anomaly\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\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Bilateral polymicrogyria\Polymicrogyria with optic nerve hypoplasia

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705808010	Polymicrogyria with optic nerve hypoplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3705809019	Polymicrogyria with optic nerve hypoplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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