17q11 deletion

Preferred Label : 17q11 deletion;

ICD-11 definition : 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1, characterized by mild facial dysmorphism, developmental delay, intellectualdeficit, and large number of neurofibromas.;

ICD-11 synonym : Neurofibromatosis 1 microdeletion syndrome (MIM 613675); Monosomy 17q11; 17q11 microdeletion syndrome; Neurofibromatosis 1 microdeletion syndrome;

Details

Origin ID

919770752;

UMLS CUI

C3150928;

Currated CISMeF NLP mapping
- 17q11 microdeletion syndrome [ORDO Disease]
- Chromosome 17q11.2 deletion syndrome, 1.4-mb [OMIM Phenotype]
- chromosome 17q11.2 deletion syndrome [DO Concept]
See also inter- (CISMeF)
- 17q11 deletion syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17q11 microdeletion syndrome [ORDO Disease]
- 17q11.2 microduplication syndrome [ORDO Disease]
- Chromosome 17q11.2 deletion syndrome, 1.4-mb [OMIM Phenotype]
- NF1 microdeletion syndrome [MeSH concept]
- NF1 microdeletion syndrome [MeSH Supplementary Concept]
- chromosome 17q11.2 deletion syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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