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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674392015	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start