Pentalogy of Cantrell

Preferred Label : Pentalogy of Cantrell;

NCIt definition : A rare syndrome characterized by the presence of omphalocele, anterior diaphragmatic hernia, sternal cleft, ectopia cordis, and ventricular septal defect or left ventricle diverticulum.;

Détails

Origin ID

C99011;

UMLS CUI

C0559483;

Currated CISMeF NLP mapping
- Cantrell pentalogy [ICD-11 More detail]
- Pentalogy of Cantrell [ORDO Disease]
- Pentalogy of Cantrell (disorder) [SNOMED CT concept]
- pentalogy of cantrell [MeSH concept]
- pentalogy of cantrell [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cantrell pentalogy [ICD-11 More detail]
- Pentalogy of Cantrell [ORDO Disease]
- Pentalogy of Cantrell (disorder) [SNOMED CT concept]
- Thoracoabdominal syndrome [OMIM Phenotype]
- pentalogy of cantrell [MeSH concept]
- pentalogy of cantrell [MeSH Descriptor]
Validated automatic mappings to NTBT
- Thoracoabdominal syndrome [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PORCN Gene [NCIt concept]

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

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