3q29 duplication

Preferred Label : 3q29 duplication;

ICD-11 definition : 3q29 microduplications are chromosomal abnormalities with unclear clinical significance. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly.;

ICD-11 synonym : 3q29 duplication syndrome; Trisomy 3q29;

Details

Origin ID

1767246611;

UMLS CUI

C2749873;

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

Keyword's position in hierarchy(ies) :

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