Feingold Syndrome

Preferred Label : Feingold Syndrome;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the MYCN oncogene. It is characterized by microcephaly, limb abnormalities, esophageal and/or duodenal atresia.;

Détails

Origin ID

C74987;

UMLS CUI

C0796068;

Currated CISMeF NLP mapping
- Feingold syndrome [DO Concept]
- Feingold syndrome [OMIM phenotypic series]
- Feingold syndrome [MedDRA LLT]
- Feingold syndrome [ORDO Disease]
- Feingold syndrome 1 [OMIM Phenotype]
- Microcephaly-oculo-digito-esophageal-duodenal syndrome (disorder) [SNOMED CT concept]
- Oculo-digito-esophageal-duodenal syndrome [MedDRA LLT]
- Oculo-digito-oesophageal-duodenal syndrome [MedDRA Preferred Term]
- Oculo-digito-oesophageal-duodenal syndrome [ICD-11 More detail]
- Oculodigitoesophagoduodenal syndrome [MeSH concept]
- oculodigitoesophagoduodenal syndrome [Disease (Nov.)]
- oculodigitoesophagoduodenal syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Feingold syndrome [ORDO Disease]
- Feingold syndrome [DO Concept]
- Feingold syndrome [MedDRA LLT]
- Feingold syndrome 1 [OMIM Phenotype]
- Microcephaly-oculo-digito-esophageal-duodenal syndrome (disorder) [SNOMED CT concept]
- Oculo-digito-esophageal-duodenal syndrome [MedDRA LLT]
- Oculo-digito-oesophageal-duodenal syndrome [MedDRA Preferred Term]
- Oculodigitoesophagoduodenal syndrome [MeSH concept]
- oculodigitoesophagoduodenal syndrome [MeSH Supplementary Concept]
- oculodigitoesophagoduodenal syndrome [Disease (Nov.)]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MYCN Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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