17q21.31 deletion

Preferred Label : 17q21.31 deletion;

ICD-11 definition : Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.;

ICD-11 synonym : 17q21.31 deletion syndrome; Monosomy 17q21.31;

Détails

Origin ID

1225666773;

Currated CISMeF NLP mapping
- 17q21 Microdeletion Syndrome [NCIt concept]
- 17q21.31 microdeletion 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 (disorder) [SNOMED CT concept]
- Koolen de Vries syndrome [DO Concept]
- Koolen-De Vries syndrome [ORDO Disease]
- Koolen-De Vries syndrome [DO Concept]
- Koolen-de vries syndrome [OMIM Phenotype]

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

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