770630005: Distal hereditary motor neuropathy type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\...
• \Autosomal dominant distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal dominant distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal dominant distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Distal spinal muscular atrophy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)
• \Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Distal spinal muscular atrophy (disorder)\Distal hereditary motor neuropathy type 1 (disorder)

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
3701703015	Distal hereditary motor neuropathy type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701704014	Distal hereditary motor neuropathy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701705010	Autosomal dominant distal juvenile spinal muscular atrophy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404852016	Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404853014	Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterised by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701703015	Distal hereditary motor neuropathy type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701704014	Distal hereditary motor neuropathy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701705010	Autosomal dominant distal juvenile spinal muscular atrophy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701706011	A rare neuromuscular disease with characteristics of slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404852016	Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404853014	Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterised by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3443831001000111	Neuropathie, distale hereditäre motorische, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886011000172110	neuropathie motrice distale héréditaire type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1004921000172110	atrophie musculaire spinale distale juvénile autosomique dominante type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886011000172110	neuropathie motrice distale héréditaire type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1004921000172110	atrophie musculaire spinale distale juvénile autosomique dominante type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3443831001000111	Neuropathie, distale hereditäre motorische, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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