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Ataxia, Spinocerebellar (CUI C0087012) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0087012

NCI Thesaurus Code: C82341  (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: Spinocerebellar ataxia (SCA) is a group of inherited conditions that are characterized by degenerative changes of the nervous system (brain and spinal cord). There are many different types of SCA; the signs and symptoms vary by type but may include an uncoordinated walk (gait), poor hand-eye coordination, and abnormal speech (dysarthria). Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Treatment is supportive and based on the signs and symptoms present in each person. - this information is from GARD/ORDR/NCATS.

HPO Definition: Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. [HPO:probinson]

MSH Definition: A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)

Synonyms & Abbreviations: (see Synonym Details)
Ataxia, Dominantly-Inherited Spinocerebellar
ATAXIA, SPINOCEREBELLAR
Ataxias, Dominantly-Inherited Spinocerebellar
Ataxias, Spinocerebellar
Atrophies, Spinocerebellar
Atrophy, Spinocerebellar
Dominantly Inherited Spinocerebellar Ataxias
Dominantly-Inherited Spinocerebellar Ataxias
Dominantly-Inherited Spinocerebellar Ataxia
SCA
Spinocerebellar ataxia (disorder)
Spinocerebellar Ataxia, Dominantly-Inherited
Spinocerebellar Ataxias [Disease/Finding]
Spinocerebellar Ataxias, Dominantly Inherited
Spinocerebellar Ataxias, Dominantly-Inherited
Spinocerebellar Ataxias
Spinocerebellar ataxia
Spinocerebellar Atrophies
Spinocerebellar atrophy
Spinocerebellar Degeneration

External Source Codes: 
NCI Thesaurus Code C82341 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN SPINOCEREBELLAR ATAXIA TYPE 3 see MACHADO-JOSEPH DISEASE is 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 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUPpt SNOMEDCT_US
DATE_CREATED 2015-01-17T00:02:00 GARD
DATE_LAST_MODIFIED 2015-01-17T00:02:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 29020 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D000067528 MSH
FX D000067696 MSH
FX D000067698 MSH
FX D000067699 MSH
FX D000067719 MSH
HAS_GARD_PAGE true GARD
HN 2000; use SPINOCEREBELLAR DEGENERATION 1987-1999 MSH
IDENTIFIER_SOURCE Gen GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Synonym Added GARD
MDA 19991108 MSH
MESH_DEFINITION A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43) NDFRT
MESH_DUI D020754 NDFRT
MESH_NAME Spinocerebellar Ataxias NDFRT
MESH_UI M0020337 NDFRT
MMR 20150219 MSH
MN C10.228.140.252.190.530 MSH
MN C10.228.140.252.700.700 MSH
MN C10.228.854.787.875 MSH
MN C10.574.500.825.700 MSH
MN C10.597.350.090.500.530 MSH
MN C16.320.400.780.875 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000004172 NDFRT
PM 2000; see SPINOCEREBELLAR DEGENERATION 1987-1999 MSH
PRIMARY_PATH 10057660$10052633$10029299$10010331$Spinocerebellar ataxia$Cerebellar disorders congenital$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 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 20.0 MDR
PT_IN_VERSION 20.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/10748/spinocerebellar-ataxia/resources/1 GARD
RXAUI 3148977 RXNORM
RXAUI 3239814 RXNORM
RXAUI 3239815 RXNORM
RXAUI 3239817 RXNORM
RXAUI 3239818 RXNORM
RXCUI 1022016 RXNORM
SMQ_TERM_ADDVERSION 10.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 129609000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G11.1 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~G11.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G11.1 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G11.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUPpt SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T038628 MSH
TERMUI T370549 MSH
TERMUI T370550 MSH
TERMUI T370551 MSH
TH NLM (2000) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0087012

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