fragile x syndrome

Preferred Label : fragile x syndrome;

MeSH definition : A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226);

MeSH synonym : syndromes, fragile x; fragile x syndromes; martin bell syndrome; syndrome, martin-bell; syndrome, fragile x; martin-bell syndrome; X-Linked mental retardation and macroorchidism; X linked mental retardation and macroorchidism; Fra(X) syndrome; marker X syndrome; marker X syndromes; syndrome, marker X; syndromes, marker X; mental retardation, X-Linked, associated with Marxq28; fragile X mental retardation syndrome;

MeSH hyponym : FRAXA syndrome; FRAXE syndrome; FRAXE Syndromes; Syndrome, FRAXE; Syndromes, FRAXE; Mental Retardation, X-Linked, Associated With Fragile Site Fraxe; Fragile X-F Mental Retardation Syndrome; Mar (X) Syndrome; FRAXA Syndromes; Syndrome, FRAXA; Syndromes, FRAXA;

Details

Origin ID

D005600;

UMLS CUI

C0016667;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- FRAXA (disorder) [SNOMED CT concept]
- FRAXE intellectual disability [ORDO Disease]
- FRAXE intellectual disability syndrome (disorder) [SNOMED CT concept]
- FRAXF syndrome [ORDO Disease]
- FRAXF syndrome (disorder) [SNOMED CT concept]
- Intellectual developmental disorder, X-linked 109 [OMIM Phenotype]
- fragile x syndrome [EMDN type]
Currated CISMeF NLP mapping
- Fragile X Syndrome [NCIt concept]
- Fragile X chromosome [ICD-10 Sub-category]
- Fragile X chromosome [ICD-11 Category]
- Fragile X chromosome [ICD-10 Sub-category (who)]
- Fragile X chromosome (disorder) [SNOMED CT concept]
- Fragile X syndrome [MedDRA Preferred Term]
- Fragile X syndrome [ICD-9 code]
- Fragile X syndrome [OMIM Phenotype]
- Fragile X syndrome [ORDO Disease]
- Fragile X syndrome (disorder) [SNOMED CT concept]
- fragile X syndrome [Disease (Nov.)]
- fragile X syndrome [DO Concept]
- fragile x syndrome [SNOMED Notion]
- fragile x syndrome [MedlinePlus Topic]
- syndrome of the 'fragile x [medical devices type]
DO Cross reference
- fragile X syndrome [DO Concept]
Indexing information
- FXR1 protein, human [MeSH Supplementary Concept]
- FXR2 protein, human [MeSH Supplementary Concept]
- FXR2 protein, mouse [MeSH Supplementary Concept]
- Fxr1h protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with epilepsy as a major feature [ORDO Disease]
- Genetic obesity [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare disease with autism [ORDO Disease]
- Rare genetic disease [ORDO Disease]
- Syndrome associated with Pierre Robin syndrome [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
MeSH Descriptor(s) used for indexing
- fragile x mental retardation protein [MeSH Descriptor]
MedlinePlus topic(s)
- fragile x syndrome [MedlinePlus Topic]
ORDO relation(s)
- Fragile X syndrome [ORDO Disease]
Record concept(s)
- FRAXA syndrome [MeSH concept]
- FRAXE syndrome [MeSH concept]
- fragile X syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- fragile X tremor ataxia syndrome [MeSH Supplementary Concept]
- saul wilkes stevenson syndrome [MeSH Supplementary Concept]
See also
- chromosome fragile sites [MeSH Descriptor]
- chromosome fragility [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- trinucleotide repeat expansion [MeSH Descriptor]
See also inter- (CISMeF)
- Intellectual developmental disorder, X-linked 109 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fragile X Syndrome [NCIt concept]
- Fragile X chromosome [ICD-10 Sub-category (who)]
- Fragile X syndrome [ORDO Disease]
- Fragile X syndrome [OMIM Phenotype]
- Fragile X syndrome [MedDRA Preferred Term]
- Fragile X syndrome [ICD-9 code]
- Fragile X syndrome (disorder) [SNOMED CT concept]
- fragile X syndrome [DO Concept]
- fragile x syndrome [MedlinePlus Topic]
- fragile x syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- FRAXF syndrome [ORDO Disease]

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