766764008: X-linked distal spinal muscular atrophy type 3 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\...

\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.

\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.
\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Spinal muscular atrophy\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.

\Chronic disease\Chronic nervous system disorder\Spinal muscular atrophy\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.

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

5404653012 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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

5404654018 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterised by 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

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

887801000172119 atrophie musculaire spinale distale liée à ATP7A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Switzerland NRC maintained Module

3425451001000119 Spinale Muskelatrophie, distale, X-chromosomale, Typ 3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Is a	Distal spinal muscular atrophy	true	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Occurrence	Congenital	false	Inferred relationship	Some	1
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Is a	Congenital disease	false	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Finding site	Nerve structure	true	Inferred relationship	Some	2
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Is a	X-linked distal hereditary motor neuropathy	true	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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.	Clinical course	Progressive	true	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
5404653012	X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by 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
5404654018	X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterised by 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
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
887801000172119	atrophie musculaire spinale distale liée à ATP7A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3425451001000119	Spinale Muskelatrophie, distale, X-chromosomale, Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module