773394007: Autosomal recessive frontotemporal pachygyria (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Finding of head region\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disorder of head\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive frontotemporal pachygyria
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \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\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive frontotemporal pachygyria
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723362011	Autosomal recessive frontotemporal pachygyria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723363018	Autosomal recessive frontotemporal pachygyria	en	Synonym	Active	Case insensitive	SNOMED CT core
3723364012	A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.	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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