782881002: Hereditary sensorimotor neuropathy with hyperelastic skin (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)\Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756536011	Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756537019	Hereditary sensorimotor neuropathy with hyperelastic skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756538012	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.	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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