Autosomal recessive Charcot-Marie-Tooth disease type 2	Chronic nervous system disorder
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Charcot-Marie-Tooth disease type 2B5 (disorder)
	Charcot-Marie-Tooth disease type 2B5
	Autosomal recessive Charcot-Marie-Tooth disease type 2B5 Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency Severe early-onset axonal neuropathy due to NEFL deficiency Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency
	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.
	hereditaire motorische en sensorische neuropathie type 2B5
	autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B5

Id	771307003
Status	Primitive

Clinical course

Associated morphology	Atrophy
Finding site	Nerve structure
Occurrence	Infancy

Finding site

Peripheral nervous system structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G60.0
Rule	TRUE
Advice	ALWAYS G60.0
Correlation	SNOMED CT source code to target map code correlation not specified