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

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
3706376010	Young adult-onset distal hereditary motor neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706377018	Autosomal recessive distal spinal muscular atrophy type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706378011	Young adult-onset distal hereditary motor neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706376010	Young adult-onset distal hereditary motor neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706377018	Autosomal recessive distal spinal muscular atrophy type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706378011	Young adult-onset distal hereditary motor neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3418411001000115	Neuropathie, distale kongenitale motorische, des jungen Erwachsenen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
906121000172112	neuropathie motrice distale héréditaire de l'adulte jeune	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1016711000172110	amyotrophie spinale distale autosomique récessive type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
906121000172112	neuropathie motrice distale héréditaire de l'adulte jeune	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1016711000172110	amyotrophie spinale distale autosomique récessive type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418411001000115	Neuropathie, distale kongenitale motorische, des jungen Erwachsenen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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