Emanuel syndrome - CISMeF

CISMeF

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Emanuel syndromeMeSH concept

Preferred Label : Emanuel syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0530194;

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]
Related record
- emanuel syndrome [MeSH Supplementary 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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17/05/2024

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