763533003: Distal hereditary motor neuropathy Jerash type (disorder)

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

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
3642769015	Distal hereditary motor neuropathy Jerash type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3642770019	Distal hereditary motor neuropathy Jerash type (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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