785299009: Cobblestone lissencephaly without muscular or ocular involvement (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \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\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Developmental disorder\Developmental hereditary disorder\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3766826014	Cobblestone lissencephaly without muscular or ocular involvement (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3766827017	Lissencephaly type 2 without muscular or ocular involvement	en	Synonym	Active	Case insensitive	SNOMED CT core
3766828010	Cobblestone lissencephaly without muscular or ocular involvement	en	Synonym	Active	Case insensitive	SNOMED CT core
3766829019	Cobblestone lissencephaly without muscular or eye involvement	en	Synonym	Active	Case insensitive	SNOMED CT core
3766830012	Lissencephaly type 2 without muscular or eye involvement	en	Synonym	Active	Case insensitive	SNOMED CT core
3766831011	A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.	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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