ziekte van Charcot-Marie-Tooth type 4

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hereditaire motorische en sensorische neuropathie type 4E (aandoening)
	hereditaire motorische en sensorische neuropathie type 4E
	ziekte van Charcot-Marie-Tooth type 4E CMT 4E autosomaal recessieve congenitale hypomyeliniserende neuropathie HMSN 4E
	Charcot-Marie-Tooth disease type 4E
	Autosomal recessive congenital hypomyelinating neuropathy
	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.

Id	763135001
Status	Primitive

Finding site	structuur van perifeer zenuwstelsel
Occurrence	congenitaal

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G60.0
Term	Hereditaire motorische en sensorische neuropathie

SNOMED CT to Orphanet simple map

99951

SNOMED CT to ICD-10 extended map

Target	G60.0
Rule	TRUE
Advice	ALWAYS G60.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified