771475006: Young adult-onset distal hereditary motor neuropathy (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\Young adult-onset distal hereditary motor neuropathy
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive distal hereditary motor neuropathy\Young adult-onset distal hereditary motor neuropathy
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy\Young adult-onset distal hereditary motor neuropathy
• \Disorder of body system\Neurological disorder\Neuropathy\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy\Young adult-onset distal hereditary motor neuropathy
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy\Young adult-onset distal hereditary motor neuropathy
• \Disorder of body system\Neurological disorder\Chronic nervous system disorder\Young adult-onset distal hereditary motor neuropathy
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy\Young adult-onset distal hereditary motor neuropathy
• \Chronic disease\Chronic nervous system disorder\Young adult-onset distal hereditary motor neuropathy

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706376010	Young adult-onset distal hereditary motor neuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3706377018	Autosomal recessive distal spinal muscular atrophy type 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3706378011	Young adult-onset distal hereditary motor neuropathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706379015	A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35.	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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