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	Sygdomme, der primært afficerer de motoriske baner	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
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
uspecificeret spinal muskelatrofi	Is a	False	Spinal muscular atrophy	Inferred relationship	Some
Spinal muskelatrofi, ikke nærmere specificeret	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
A rare bulbospinal muscular atrophy characterised by generalised 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
Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walking on the balls of the feet. Some also have weakness in upper limb muscles. Contractures of the hips, knees, feet, and ankles may occur and in severe cases may be present from birth. Muscle problems are apparent in infancy or early childhood however about one-quarter of affected individuals do not develop muscle weakness until adulthood. Caused by mutations in the DYNC1H1 gene or BICD2 gene.	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
A rare genetic motor neuron disease with characteristics of 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 gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11.	Is a	True	Spinal muscular atrophy	Inferred relationship	Some
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13.	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
4915981000005114	spinal muskelatrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)