17q21 Microdeletion Syndrome

Preferred Label : 17q21 Microdeletion Syndrome;

NCIt synonyms : Chromosome 17q21 Microdeletion Syndrome;

NCIt definition : A genetic syndrome caused by microdeletions in chromosome 17q21. The microdeletions encompass the MAPT and CRHR1 genes. It is characterized by mental retardation, hypotonia, distinctive facial features (long face, low-set ears, and pear-shaped nose), friendly behavior, and heart defects.;

Details

Origin ID

C75470;

UMLS CUI

C2699198;

Currated CISMeF NLP mapping
- 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 [MeSH Supplementary Concept]
- chromosome 17q21.31 deletion syndrome [Disease (Nov.)]
- 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]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 17 [NCIt concept]

Keyword's position in hierarchy(ies) :

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