emanuel syndrome

Preferred Label : emanuel syndrome;

MeSH note : Caused by a t(11;22)(q23;q11.2) translocation.;

MeSH synonym : supernumerary der(22) syndrome; supernumerary der(22)t(11;22) syndrome; supernumary Der(22)T(11;22) syndrome; supernumary derivative 22 chromosome syndrome; supernumary Der(22) syndrome; Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events;

Details

Origin ID

C535733;

UMLS CUI

C1836929;

Automatic exact mappings (from CISMeF team)
- Emanuel syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Emanuel syndrome [OMIM Phenotype]
- Emanuel syndrome [ORDO Disease]
- Supernumerary der(22)t(11;22) syndrome [ICD-11 More detail]
- Supernumerary der(22)t(11;22) syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
- Prenatal growth deficiency [HPO term]
MeSH term(s) associated for indexing
- chromosome disorders [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
ORDO relation(s)
- Emanuel syndrome [ORDO Disease]
Record concept(s)
- Emanuel syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Emanuel syndrome [ORDO Disease]
- Emanuel syndrome [OMIM Phenotype]
- Emanuel syndrome [MedDRA Preferred Term]
- Supernumerary der(22)t(11;22) syndrome [ICD-11 More detail]
- Supernumerary der(22)t(11;22) syndrome (disorder) [SNOMED CT concept]
- Supernumerary der(22)t(8 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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