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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:
| 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
