771475006: neuropathie motrice distale héréditaire de l'adulte jeune (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\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
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Young adult-onset distal hereditary motor neuropathy
• \affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Young adult-onset distal hereditary motor neuropathy
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Young adult-onset distal hereditary motor neuropathy
• \affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Young adult-onset distal hereditary motor neuropathy
• \affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Young adult-onset distal hereditary motor neuropathy
• \maladie chronique\trouble neurologique chronique\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
1016711000172110	amyotrophie spinale distale autosomique récessive type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
770791000241119	neuropathie motrice distale héréditaire de l'adulte jeune (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
906121000172112	neuropathie motrice distale héréditaire de l'adulte jeune	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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