15q13.3 deletion

Preferred Label : 15q13.3 deletion;

ICD-11 definition : 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders (developmental delay, mainly in speech acquisition, cognitive impairment, idiopathic generalized epilepsy, neurobehavioral disorders of the autistic or psychotic spectrum), with no or subtle dysmorphic features.;

ICD-11 synonym : 15q13.3 monosomy syndrome; 15q13.3 microdeletion syndrome;

Details

Origin ID

1824908852;

UMLS CUI

C2677613;

Currated CISMeF NLP mapping
- 15q13.3 microdeletion syndrome [ORDO Disease]
- Chromosome 15q13.3 deletion syndrome [OMIM Phenotype]
- Microdeletion of chromosome 15q13.3 (disorder) [SNOMED CT concept]
- chromosome 15q13.3 deletion syndrome [Disease (Nov.)]
- chromosome 15q13.3 microdeletion syndrome [MeSH Supplementary Concept]
- chromosome 15q13.3 microdeletion syndrome [DO Concept]
- chromosome 15q13.3 microdeletion syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 15q13.3 microdeletion syndrome [ORDO Disease]
- Chromosome 15q13.3 deletion syndrome [OMIM Phenotype]
- Microdeletion of chromosome 15q13.3 (disorder) [SNOMED CT concept]
- chromosome 15q13.3 deletion syndrome [Disease (Nov.)]
- chromosome 15q13.3 microdeletion syndrome [DO Concept]
- chromosome 15q13.3 microdeletion syndrome [MeSH concept]
- chromosome 15q13.3 microdeletion syndrome [MeSH Supplementary Concept]

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