Chromosome 15q11-q13 Duplication Syndrome

Preferred Label : Chromosome 15q11-q13 Duplication Syndrome;

NCIt definition : A syndrome caused by duplication of chromosome 15q11-q13. It is characterized by autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems.;

Details

Origin ID

C126692;

UMLS CUI

C2675336;

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 [OMIM Phenotype]
- duplication 15q11-q13 syndrome [MeSH Supplementary Concept]
- duplication 15q11-q13 syndrome [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 [OMIM Phenotype]
- duplication 15q11-q13 syndrome [MeSH Supplementary Concept]
- duplication 15q11-q13 syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 15 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients