763533003: Distal hereditary motor neuropathy Jerash type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642768011	Autosomal recessive distal spinal muscular atrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642769015	Distal hereditary motor neuropathy Jerash type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3642770019	Distal hereditary motor neuropathy Jerash type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404097012	A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (around 10 years after onset).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404098019	A rare, genetic, neuromuscular disease characterised by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilises (around 10 years after onset).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642768011	Autosomal recessive distal spinal muscular atrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642769015	Distal hereditary motor neuropathy Jerash type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3642770019	Distal hereditary motor neuropathy Jerash type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3642771015	A rare genetic neuromuscular disease characterised by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilises.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642772010	A rare genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404097012	A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (around 10 years after onset).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404098019	A rare, genetic, neuromuscular disease characterised by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilises (around 10 years after onset).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429561001000119	Neuropathie, distale hereditäre motorische, Typ Jerash	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
884371000172110	neuropathie motrice distale héréditaire type Jerash	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
932301000172113	amyotrophie spinale distale autosomique récessive type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
884371000172110	neuropathie motrice distale héréditaire type Jerash	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
932301000172113	amyotrophie spinale distale autosomique récessive type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429561001000119	Neuropathie, distale hereditäre motorische, Typ Jerash	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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