715797002: Charcot-Marie-Tooth disease type 4C (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 4C
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4C
• \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 4C
• \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 4C
• \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 4C
• \Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4C

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303744019	Charcot-Marie-Tooth disease type 4C (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3303745018	Charcot-Marie-Tooth disease type 4C	en	Synonym	Active	Case sensitive	SNOMED CT core
3303746017	Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis. CMT4C is a relatively frequent form of CMT4: it was first described in Algeria but families have since been reported from Morocco, Mediterranean countries and from Germany, the Netherlands and France. Scoliosis may be the inaugural feature of the disease, with onset usually occurring in childhood. CMT4C is caused by mutations in the SH3TC2 gene (5q32). 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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