Autosomal dominant hereditary disorder	Hereditary motor and sensory neuropathy
\|	\|

Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)
	Hereditary sensorimotor neuropathy with hyperelastic skin
	A rare genetic demyelinating hereditary motor and sensory neuropathy disorder with characteristics of slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (for example pectus excavatus, dolichocephaly) may also be associated. There is evidence the disease is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32.
	hereditaire motorische en sensorische neuropathie met hyperelastische huid
	CMT met hyperelastische huid erfelijke sensorimotorische neuropathie met hyperelastische huid HMSN met hyperelastische huid ziekte van Charcot-Marie-Tooth met hyperelastische huid

Id	782881002
Status	Primitive

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 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified