15q11 duplication or inversion

Preferred Label : 15q11 duplication or inversion;

ICD-11 definition : The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.;

Details

Origin ID

1920979014;

UMLS CUI

C3711376;

Currated CISMeF NLP mapping
- Inverted duplicated chromosome 15 syndrome [ORDO Disease]
- Isodicentric chromosome 15 syndrome (disorder) [SNOMED CT concept]
- isodicentric chromosome 15 syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inverted duplicated chromosome 15 syndrome [ORDO Disease]
- Isodicentric chromosome 15 syndrome [MedDRA Preferred Term]
- Isodicentric chromosome 15 syndrome (disorder) [SNOMED CT concept]
- isodicentric chromosome 15 syndrome [MeSH concept]
- isodicentric chromosome 15 syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients