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)\Chronic nervous system 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\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	dégénérescence	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	true	Inferred relationship	Some
Spinal muscular atrophy	Clinical course	Progressive	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
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Segmental spinal muscular atrophy (disorder)	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
Proximal spinal muscular atrophy (disorder)	Is a	True	Spinal muscular atrophy	Inferred relationship	Some

This concept is not in any reference sets

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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
1805881000195110	atrofia muscolare spinale	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391989019	atrophie de la musculature du rachis	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
316021000172118	amyotrophie spinale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
496351000172115	atrophie musculaire spinale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
883981000195119	Spinale Muskelatrophie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module