715799004: Charcot-Marie-Tooth disease type 4G (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4G
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4G
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4G
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4G
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4G
• \Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4G

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303751011	Charcot-Marie-Tooth disease type 4G (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3303752016	Charcot-Marie-Tooth disease type 4G	en	Synonym	Active	Case sensitive	SNOMED CT core
3303753014	Hereditary motor and sensory neuropathy Russe type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303754015	Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature. The disease-causing gene has not yet been identified but linkage analysis and recombination mapping have led to identification of a small interval on 10q23.2. Transmitted in an autosomal recessive manner.	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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