chromosome 17q21.31 deletion syndrome

Preferred Label : chromosome 17q21.31 deletion syndrome;

MeSH synonym : microdeletion 17q21.31 syndrome; 17q21.31 microdeletion syndrome; chromosome 17q21.31 microdeletion syndrome; monosomy 17q21.31; Koolen-De vries syndrome; 17q21.31 deletion syndrome; koolen syndrome;

Détails

Origin ID

C566476;

UMLS CUI

C1864871;

Currated CISMeF NLP mapping
- 17q21 Microdeletion Syndrome [NCIt concept]
- 17q21.31 deletion [ICD-11 More detail]
- 17q21.31 microdeletion syndrome [ORDO Disease]
- Koolen De Vries syndrome (disorder) [SNOMED CT concept]
- Koolen de Vries syndrome [DO Concept]
- Koolen-De Vries syndrome [DO Concept]
- Koolen-De Vries syndrome [ORDO Disease]
- chromosome 17q21.31 deletion syndrome [Disease (Nov.)]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 17 [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- chromosome 17q21.31 deletion syndrome [MeSH concept]
See also inter- (CISMeF)
- Koolen-de vries syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17q21.31 microdeletion syndrome [ORDO Disease]
- Koolen De Vries syndrome (disorder) [SNOMED CT concept]
- Koolen-De Vries syndrome [ORDO Disease]
- Koolen-de vries syndrome [OMIM Phenotype]

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

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