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Spinal Muscular Atrophy (CUI C0026847) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0026847

NCI Thesaurus Code: C85075  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.

GARD Definition: 

Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases, the muscles used for breathing and swallowing are affected. Spinal muscular atrophy is divided into subtypes based on the severity of the disease and the age when symptoms first appear. It is usually inherited as an autosomal recessive trait.

- this information is from GARD/ORDR/NCATS.

HPO Definition: Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [HPO:probinson]

MEDLINEPLUS Definition: 

Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control.

SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family.

There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.

NIH: National Institute of Neurological Disorders and Stroke

MSH Definition: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)

Synonyms & Abbreviations: (see Synonym Details)
Amyotrophies, Spinal
Amyotrophy, Spinal
Atrophy, Spinal Muscular
Muscular Atrophy, Spinal [Disease/Finding]
MUSCULAR ATROPHY, SPINAL
SMA - Spinal muscular atrophy
SMA
Spinal Amyotrophies
Spinal amyotrophy
Spinal muscl atrophy NOS
SPINAL MUSCLE ATROPHY
Spinal muscle degeneration
Spinal muscle wasting
Spinal muscular atrophy (disorder)
Spinal muscular atrophy, unspecified
Spinal muscular atrophy

External Source Codes: 
NCI Thesaurus Code C85075 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN MUSCULAR ATROPHY, SPINAL, INFANTILE see SPINAL MUSCULAR ATROPHIES OF CHILDHOOD is also available MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID F151. SNOMEDCT_US
DATE_CREATED 06/27/2002 MEDLINEPLUS
DATE_CREATED 2015-01-22T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 33622 GARD
DX 19880101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 1988 MSH
IAN DEFAULT ICD10
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19870310 MSH
MESH_DEFINITION A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089) NDFRT
MESH_DUI D009134 NDFRT
MESH_NAME Muscular Atrophy, Spinal NDFRT
MESH_UI M0014250 NDFRT
MMR 20150623 MSH
MN C10.228.854.468 MSH
MN C10.574.562.500 MSH
MN C10.668.467.500 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/spinalmuscularatrophy.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/spinalmuscularatrophy.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Spinal Muscular Atrophy NCI
NUI N0000002063 NDFRT
ORDER_NO 05814 ICD10CM
PM 1988 MSH
PRIMARY_PATH 10041582$10029300$10029299$10010331$Spinal muscular atrophy$Neurological disorders congenital NEC$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7674/spinal-muscular-atrophy/resources/1 GARD
REF orcid.org/0000-0001-5208-3432 HPO
RXAUI 3200340 RXNORM
RXAUI 3200341 RXNORM
RXAUI 3239742 RXNORM
RXAUI 5932301 RXNORM
RXCUI 1024269 RXNORM
SMQ_TERM_ADDVERSION 11.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 192885003 NDFRT
SNOMED_CID 5262007 NDFRT
SNOMEDID DA-23050 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G12.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G12.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G12.9 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BEFORE 1.0 YEAR CHOOSE G12.0 | DESCENDANTS NOT EXHAUSTIVELY MAPPED | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BETWEEN 1.0 YEAR AND 18.0 YEARS CHOOSE G12.1 | DESCENDANTS NOT EXHAUSTIVELY MAPPED | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 445518008 | Age at onset of clinical finding (observable entity) | < 1.0 year SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 445518008 | Age at onset of clinical finding (observable entity) | >= 1.0 year AND IFA 445518008 | Age at onset of clinical finding (observable entity) | < 18.0 years SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G12.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G12.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G12.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F151. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DA-23050 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T027300 MSH
TERMUI T027301 MSH
TERMUI T842508 MSH
TH GHR (2014) MSH
TH NLM (1988) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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