X chromosome, monosomy Xq28

Preferred Label : X chromosome, monosomy Xq28;

MeSH synonym : deletion Xq28; monosomy Xq28;

Is substance : O;

Origin ID

C536755;

UMLS CUI

C2931312;

Currated CISMeF NLP mapping
- Deafness, dystonia, and cerebral hypomyelination [OMIM Phenotype]
- Xq28 deletion [ICD-11 More detail]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, X [MeSH Descriptor]
- sex chromosome aberrations [MeSH Descriptor]
Record concept(s)
- X chromosome, monosomy Xq28 [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Xq28 deletion [ICD-11 More detail]