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FRAGILE X TREMOR/ATAXIA SYNDROME (CUI C1839780) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C1839780

NCI Thesaurus Code: C126566  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age.

Synonyms & Abbreviations: (see Synonym Details)
Fragile X associated tremor ataxia syndrome (disorder)
Fragile X associated tremor ataxia syndrome
Fragile X Tremor Ataxia Syndrome
FRAGILE X TREMOR/ATAXIA SYNDROME
Fragile X-Associated Tremor Ataxia Syndrome
Fxtas

External Source Codes: 
NCI Thesaurus Code C126566 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUkf7 SNOMEDCT_US
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
EFFECTIVE_TIME 20110731 SNOMEDCT_US
FR 66 MSH
GENELOCUS ,X,q,2,7,.,3, OMIM
GENESYMBOL FMR1 OMIM
GENESYMBOL FRAXA OMIM
GENESYMBOL POF1 OMIM
HM D001259 MSH
HM D005600 MSH
HM D014202 MSH
MDA 20121105 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150818 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
RN 0 MSH
SC 3 MSH
SOS An ataxia caused by expanded TRINUCLEOTIDE REPEATS in the FMR1 gene on the X chromosome. Occurs predominantly in men over 50 years of age. In addition to ataxia, TREMOR, brain atrophy, and DEMENTIA also occur. OMIM: 300623 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G11.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q99.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G11.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q99.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G11.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G25.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q99.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G11.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G25.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q99.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUkf7 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T000866576 MSH
TERMUI T829088 MSH
TERMUI T841450 MSH
TH GHR (2014) MSH
TH OMIM (2013) 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=C1839780

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