chromosome Xq28 duplication syndrome

Preferred Label : chromosome Xq28 duplication syndrome;

MeSH synonym : Gdi1 duplication syndrome;

Origin ID

C567580;

UMLS CUI

C2749007;

Currated CISMeF NLP mapping
- Chromosome xq28 duplication syndrome [OMIM Phenotype]
- Distal Xq28 microduplication syndrome [ORDO Disease]
- Distal Xq28 microduplication syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- chromosome duplication [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- facies [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- sex chromosome disorders [MeSH Descriptor]
Record concept(s)
- chromosome Xq28 duplication syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome xq28 duplication syndrome [OMIM Phenotype]
- Distal Xq28 microduplication syndrome [ORDO Disease]