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

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3642516019	X-linked Charcot-Marie-Tooth disease type 2	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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