fragile X tremor ataxia syndrome

Preferred Label : fragile X tremor ataxia syndrome;

MeSH note : PROM caused by an expanded trinucleotide repeat in FMR1;

MeSH synonym : Fxtas; Fragile X-Associated Tremor Ataxia Syndrome; FXTAS Fragile X Tremor Ataxia Syndrome;

Details

Origin ID

C564105;

UMLS CUI

C1839780;

Currated CISMeF NLP mapping
- Fragile X Tremor/Ataxia Syndrome [NCIt concept]
- Fragile X associated tremor ataxia syndrome (disorder) [SNOMED CT concept]
- Fragile X tremor/ataxia syndrome [OMIM Phenotype]
- Fragile X-associated tremor/ataxia syndrome [PASCAL descriptor]
- Fragile X-associated tremor/ataxia syndrome [ORDO Disease]
- fragile X associated tremor/ataxia syndrome [Disease (Nov.)]
- fragile X-associated tremor/ataxia syndrome [DO Concept]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- fragile x syndrome [MeSH Descriptor]
- tremor [MeSH Descriptor]
Record concept(s)
- fragile X tremor ataxia syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fragile X Tremor/Ataxia Syndrome [NCIt concept]
- Fragile X associated tremor ataxia syndrome (disorder) [SNOMED CT concept]
- Fragile X tremor/ataxia syndrome [OMIM Phenotype]
- Fragile X-associated tremor/ataxia syndrome [ORDO Disease]
- Fragile X-associated tremor/ataxia syndrome [PASCAL descriptor]
- fragile X associated tremor/ataxia syndrome [Disease (Nov.)]
- fragile X-associated tremor/ataxia syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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