1187619001: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (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\Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
• \Metabolic disease\Disorder of mineral metabolism\Copper metabolism disorder\Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674391010	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4674392015	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674393013	A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.	en	Definition	Active	Case sensitive	SNOMED CT core

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