763457000: X-linked Charcot-Marie-Tooth disease type 2 (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)\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 2 (disorder)
• \Sex-linked hereditary disorder\X-linked hereditary disease\...
• \X-linked recessive hereditary disease\X-linked Charcot-Marie-Tooth disease type 2 (disorder)
• \X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 2 (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 2 (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 2 (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)\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 2 (disorder)
• \Congenital disease (disorder)\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642515015	X-linked Charcot-Marie-Tooth disease type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642516019	X-linked Charcot-Marie-Tooth disease type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642517011	A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4136181000052118	X-kromosombunden Charcot-Marie-Tooths sjukdom, typ 2	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

GB English

US English

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