Supernumerary der(22)t(11;22) syndrome

Preferred Label : Supernumerary der(22)t(11;22) syndrome;

ICD-11 definition : Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities.;

ICD-11 synonym : Emanuel syndrome;

Details

Origin ID

1821612421;

UMLS CUI

C1836929;

Automatic exact mappings (from CISMeF team)
- Emanuel syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Emanuel syndrome [MeSH concept]
- Emanuel syndrome [OMIM Phenotype]
- Emanuel syndrome [ORDO Disease]
- Supernumerary der(22)t(11;22) syndrome (disorder) [SNOMED CT concept]
- emanuel syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Emanuel syndrome [OMIM Phenotype]
- Emanuel syndrome [MeSH concept]
- Emanuel syndrome [ORDO Disease]
- Emanuel syndrome [MedDRA Preferred Term]
- Supernumerary der(22)t(11;22) syndrome (disorder) [SNOMED CT concept]
- Supernumerary der(22)t(8 [OMIM Phenotype]
- emanuel syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients