715801001: Charcot-Marie-Tooth disease type 4F (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease type 4 (disorder)\Charcot-Marie-Tooth disease type 4F (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4 (disorder)\Charcot-Marie-Tooth disease type 4F (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Charcot-Marie-Tooth disease type 4 (disorder)\Charcot-Marie-Tooth disease type 4F (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease type 4 (disorder)\Charcot-Marie-Tooth disease type 4F (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease type 4 (disorder)\Charcot-Marie-Tooth disease type 4F (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease type 4 (disorder)\Charcot-Marie-Tooth disease type 4F (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303758017	Charcot-Marie-Tooth disease type 4F (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303759013	Charcot-Marie-Tooth disease type 4F	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303760015	Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It is a rare form of CMT4 but the few reported families are from diverse ethnic groups: Lebanese Shiite Muslims, Hispanic North Americans, Northern Europeans and a Vietnamese family. Onset generally occurs in childhood but severity varies. Early onset with delayed motor milestones, and proximal and distal muscle weakness has been reported but a family in which the clinical picture was marked initially by sensory neuropathy has also been described. CMT4 is caused by mutations in the PRX gene (19q13.2). Transmitted in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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