766764008: X-gebonden distale spinale spieratrofie type 3 (aandoening)

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 (disorder)

\Hereditary motor neuron disease\Spinal muscular atrophy\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)

\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 (disorder)
\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 (disorder)
\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 (disorder)
\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 (disorder)
\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 (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Distal spinal muscular atrophy\X-linked distal spinal muscular atrophy type 3 (disorder)
\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 (disorder)
\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 (disorder)
\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 (disorder)

\Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\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:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
6168461000146118	X-gebonden distale spinale spieratrofie type 3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6168471000146112	ATP7A-gerelateerde distale motorische neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6168481000146114	X-gebonden distale spinale spieratrofie type 3 (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6168491000146111	X-gebonden distale erfelijke motorische neuropathie type 3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6168501000146118	X-gebonden distale hereditaire motorische neuropathie type 3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6168511000146116	X-gebonden distale spinale musculaire atrofie type 3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6168521000146114	SMAX3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained 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