duplication 15q11-q13 syndrome

Preferred Label : duplication 15q11-q13 syndrome;

MeSH synonym : chromosome 15q11-q13 duplication syndrome;

Related MeSH term : 15q11.2 microdeletion; Chromosome 15q11.2 deletion syndrome;

Details

Origin ID

C557830;

UMLS CUI

C2675336;

Automatic exact mappings (from CISMeF team)
- Chromosome 15q11.2 deletion syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- 15q11q13 duplication [ICD-11 More detail]
- 15q11q13 microduplication syndrome [ORDO Disease]
- 15q11q13 microduplication syndrome (disorder) [SNOMED CT concept]
- Chromosome 15q11-q13 Duplication Syndrome [NCIt concept]
- Chromosome 15q11-q13 duplication syndrome [OMIM Phenotype]
False automatic mappings
- 15q11.2 deletion [ICD-11 More detail]
- 15q11.2 microdeletion syndrome [ORDO Disease]
- 15q11.2 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 15q11.2 deletion syndrome [DO Concept]
MeSH term(s) associated for indexing
- chromosome aberrations [MeSH Descriptor]
- chromosomes, human, pair 15 [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- duplication 15q11-q13 syndrome [MeSH concept]
- microdeletion 15q11.2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 15q11q13 microduplication syndrome [ORDO Disease]
- 15q11q13 microduplication syndrome (disorder) [SNOMED CT concept]
- Chromosome 15q11-q13 Duplication Syndrome [NCIt concept]
- Chromosome 15q11-q13 duplication syndrome [OMIM Phenotype]

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