3q29 deletion - CISMeF

Preferred Label : 3q29 deletion;

ICD-11 definition : 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and mild dysmorphic features.;

ICD-11 synonym : Monosomy 3q29; 3q29 deletion syndrome;

Details

Origin ID

1617588865;

UMLS CUI

C2674949;

Currated CISMeF NLP mapping
- 3q29 microdeletion syndrome [ORDO Disease]
- 3q29 microdeletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 3q29 deletion syndrome [OMIM Phenotype]
- chromosome 3q29 deletion syndrome [MeSH Supplementary Concept]
- chromosome 3q29 deletion syndrome [MeSH concept]
- chromosome 3q29 microdeletion syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3q29 microdeletion syndrome [ORDO Disease]
- 3q29 microdeletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 3q29 deletion syndrome [OMIM Phenotype]
- chromosome 3q29 deletion syndrome [MeSH concept]
- chromosome 3q29 deletion syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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