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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705571013	Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705572018	Severe early-onset axonal neuropathy due to NEFL deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705573011	Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705574017	Autosomal recessive Charcot-Marie-Tooth disease type 2B5	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705575016	Charcot-Marie-Tooth disease type 2B5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705576015	Charcot-Marie-Tooth disease type 2B5 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705577012	A rare axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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