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230247001: distale spinale spieratrofie (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy
\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
\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Distal spinal muscular atrophy
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy

\Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Distal spinal muscular atrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal spinal muscular atrophy	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Distal spinal muscular atrophy	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Distal spinal muscular atrophy	Finding site	Motor neuron	false	Inferred relationship	Some
Distal spinal muscular atrophy	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Distal spinal muscular atrophy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spinal muscular atrophy with respiratory distress type 1	Is a	False	Distal spinal muscular atrophy	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Autosomal dominant congenital benign spinal muscular atrophy	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Distal hereditary motor neuropathy Jerash type	Is a	False	Distal spinal muscular atrophy	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3 (disorder)	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Autosomal recessive distal spinal muscular atrophy type 3 (disorder)	Is a	False	Distal spinal muscular atrophy	Inferred relationship	Some
Distal hereditary motor neuropathy type 1 (disorder)	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 2	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Distal hereditary motor neuropathy type 7	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Autosomal recessive lower motor neuron disease with childhood onset	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Young adult-onset distal hereditary motor neuropathy	Is a	False	Distal spinal muscular atrophy	Inferred relationship	Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
345060017	Distal spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618029018	Distal spinal muscular atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12181000146113	distale spinale spieratrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
957901000146116	distale spinale spieratrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)