Preferred Label : sex chromosome aberrations;
MeSH definition : Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations
are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.;
MeSH synonym : chromosome aberration, sex; sex chromosome aberration; chromosome abnormality, sex; aberration, sex chromosome; aberrations, sex chromosome; chromosome aberrations, sex; sex chromosome abnormalities; abnormality, sex chromosome; sex chromosome abnormality; abnormalities, sex chromosome; chromosome abnormalities, sex;
MeSH annotation : coordinate with specific sex chromosome (IM);
Origin ID : D012729;
UMLS CUI : C0036868;
- A pour morphologie d'après SNOMED CT
- Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Manual BTNT mappings - CISMeF
- MeSH Descriptor(s) used for indexing
- Record concept(s)
- Related MeSH Supplementary Concept(s)
- SNOMED CT : localisation
- See also
- See also (suggested by CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations
are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
https://www.rarechromo.org/media/translations/Francais/Pentasomie_X%20QFN.pdf
2014
United Kingdom
French
popular works
sex chromosome aberrations
aneuploidy
chromosomes, human, X
sex chromosome disorders
49,XXXXX syndrome
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https://www.rarechromo.org/media/translations/Francais/XXXY_syndrome_French%20FTNW.pdf
2011
United Kingdom
French
popular works
XXXY syndrome
sex chromosome aberrations
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https://www.rarechromo.org/media/translations/Francais/Tetrasomie_X%20FTNP.pdf
https://www.rarechromo.org/media/translations/Francais/Tetrasomie_X%20FTNW.pdf
2006
United Kingdom
French
popular works
sex chromosome aberrations
intellectual disability
craniofacial abnormalities
tetrasomy X
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