766764008: atrophie musculaire spinale distale liée à l'X type 3 (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\...
• \X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Lower motor neuron disease\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 (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
3662542012	X-linked distal spinal muscular atrophy type 3 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662543019	X-linked distal hereditary motor neuropathy type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662544013	X-linked distal spinal muscular atrophy type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662545014	ATP7A (ATPase copper transporting alpha) related distal motor neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
768371000241112	atrophie musculaire spinale distale liée à l'X type 3 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
887801000172119	atrophie musculaire spinale distale liée à ATP7A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
959711000172115	atrophie musculaire spinale distale liée à l'X type 3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3662546010	A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	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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