771307003: Charcot-Marie-Tooth disease type 2B5 (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\Charcot-Marie-Tooth disease, type II\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2B5
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2B5
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2B5
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2B5
• \Disorder of body system\Disorder of nervous system\Neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2B5
• \Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2B5
• \Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Charcot-Marie-Tooth disease type 2B5
• \Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2B5
• \Chronic disease\Chronic nervous system disorder\Charcot-Marie-Tooth disease type 2B5

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705571013	Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3705572018	Severe early-onset axonal neuropathy due to NEFL deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3705573011	Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3705574017	Autosomal recessive Charcot-Marie-Tooth disease type 2B5	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3705575016	Charcot-Marie-Tooth disease type 2B5	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3705576015	Charcot-Marie-Tooth disease type 2B5 (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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