715406003: Isolated lissencephaly type 1 without known genetic defect (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \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 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \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 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \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 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Isolated lissencephaly type 1 without known genetic defect

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302493017	Isolated lissencephaly type 1 without known genetic defect (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302494011	Isolated lissencephaly type 1 without known genetic defect	en	Synonym	Active	Case insensitive	SNOMED CT core
3302495012	A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	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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