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Fragile X syndrome

^ http://www.orpha.net/ORDO/Orphanet_908


Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

Synonyms: FXS, FraX syndrome, Martin-Bell syndrome, FRAXA syndrome

Term info

database cross reference
  • ICD-10:Q99.2 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0751156 (E (exact mapping (the terms and the concepts are equivalent)))
  • MeSH:D005600 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0016667 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:300624 (NTBT (narrower term maps to a broader term))
  • ICD-10:Q99.2 (Specific code (The term has its own code in the ICD10))
  • MedDRA:10017324 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

MeSH:D005600, ICD-10:Q99.2, UMLS:C0751156, MedDRA:10017324, OMIM:300624, UMLS:C0016667

notation

ORPHA:908

Term relations

Subclass of: