763460007: X-linked Charcot-Marie-Tooth disease type 5 (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 5
• \Sex-linked hereditary disorder\X-linked hereditary disease\...
• \X-linked recessive hereditary disease\X-linked Charcot-Marie-Tooth disease type 5
• \X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 5
• \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 5
• \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 5
• \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 5
• \Congenital disease\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 5

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642524012	X-linked Charcot-Marie-Tooth disease type 5 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3642525013	X-linked Charcot-Marie-Tooth disease type 5	en	Synonym	Active	Case sensitive	SNOMED CT core
3642527017	A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infancy to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral profound prelingual sensorineural hearing loss and progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.	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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