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5262007: 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

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

\Chronic disease\Chronic nervous system disorder (disorder)\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
Spinal muscular atrophy	Is a	Hereditary motor neuron disease	true	Inferred relationship	Some
Spinal muscular atrophy	Is a	Disorder primarily affecting the motor pathways	false	Inferred relationship	Some
Spinal muscular atrophy	Is a	Lower motor neuron disease	true	Inferred relationship	Some
Spinal muscular atrophy	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Spinal muscular atrophy	Finding site	Motor neuron	false	Inferred relationship	Some
Spinal muscular atrophy	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Spinal muscular atrophy	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Spinal muscular atrophy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Progressive bulbar palsy of childhood	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Distal spinal muscular atrophy	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Scapuloperoneal spinal muscular atrophy	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Facioscapulohumeral spinal muscular atrophy	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Scapulohumeral spinal muscular atrophy	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Oculopharyngeal spinal muscular atrophy	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Bulbospinal neuronopathy	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Hereditary canine spinal muscular atrophy	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
Spinal muscular atrophy, type II	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Kugelberg-Welander disease	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Werdnig-Hoffmann disease	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Adult spinal muscular atrophy	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Unspecified spinal muscular atrophy	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
Spinal muscular atrophy NOS	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
[X]Other inherited spinal muscular atrophy	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
[X]Other spinal muscular atrophies and related syndromes	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
Lower motor neuron syndrome with late-adult onset (disorder)	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
Autosomal dominant adult-onset proximal spinal muscular atrophy	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
Autosomal dominant hereditary spinal muscular atrophy (disorder)	Is a	True	Spinal muscular atrophy	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
9822014	Spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
790650015	Spinal muscular atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231128013	SMA - Spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5372774010	Progressive spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
87591000146116	spinale spieratrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
922861000146111	spinale spieratrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1837751000146111	spinale musculaire atrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1837761000146114	SMA	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7590591000146119	Spinale musculaire atrofie (SMA) zijn spierziekten waarbij het ziekteproces in het ruggenmerg plaatsvindt (spinaal), waardoor de spieren (musculair) uiteindelijk dunner en slapper worden (atrofie). Dit leidt tot spierzwakte en verlammingen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)