Xq25 Microduplication Syndrome

Preferred Label : Xq25 Microduplication Syndrome;

NCIt definition : An X-linked genetic condition caused by duplication of a small segment of Xq25, which may encompass the GRIA3 and STAG2 genes, encoding glutamate receptor 3 and cohesin subunit SA-2. It is characterized by intellectual disability and distinctive facial dysmorphisms.;

NCI Metathesaurus CUI : CL1643199;

Détails

Origin ID

C177544;

UMLS CUI

C5447842;

Currated CISMeF NLP mapping
- Chromosome xq25 duplication syndrome [OMIM Phenotype]
- Xq25 microduplication syndrome [ORDO Disease]
- Xq25 microduplication syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xq25 microduplication syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome X [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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