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5262007: Spinal muscular atrophy (disorder)

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)\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

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	sjukdom som primärt påverkar motoriska banor	false	Inferred relationship	Some
Spinal muscular atrophy	Is a	Lower motor neuron disease	true	Inferred relationship	Some
Spinal muscular atrophy	Associated morphology	degeneration	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

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	True	Spinal muscular atrophy	Inferred relationship	Some
Lower motor neuron syndrome with late-adult onset (disorder)	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Autosomal dominant adult-onset proximal spinal muscular atrophy	Is a	True	Spinal muscular atrophy	Inferred relationship	Some

This concept is not in any reference sets

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
9823016	Spinal muscular atrophy, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
2111811000052110	spinal muskelatrofi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)