Pulmonary atresia with ventricular septal defect

Preferred Label : Pulmonary atresia with ventricular septal defect;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : DiChiara et al. (1980) observed pulmonary atresia with ventricular septal defect in father and son. They could find no previous report of familial occurrence and favored a multifactorial basis. *FIELD* RF 1. DiChiara, J. A.; Pieroni, D. R.; Gingell, R. L.; Bannerman, R. M.; Vlad, P.: Familial pulmonary atresia: its occurrence with a ventricular septal defect. Am. J. Dis. Child. 134: 506-508, 1980. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 178370;

Détails

Origin ID

178370;

UMLS CUI

C0344976;

Currated CISMeF NLP mapping
- Pulmonary Valve Atresia with Ventricular Septal Defect [NCIt concept]
- Pulmonary atresia with ventricular septal defect [ORDO Disease]
- Pulmonary atresia with ventricular septal defect (disorder) [SNOMED CT concept]
- pulmonary atresia with ventricular septal defect [Disease (Nov.)]
- pulmonary atresia with ventricular septal defect [MeSH concept]
- pulmonary atresia with ventricular septal defect [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Pulmonary artery atresia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Pulmonary atresia with ventricular septal defect [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Pulmonary Valve Atresia with Ventricular Septal Defect [NCIt concept]
- Pulmonary atresia with ventricular septal defect [ORDO Disease]
- Pulmonary atresia with ventricular septal defect (disorder) [SNOMED CT concept]
- pulmonary atresia with ventricular septal defect [MeSH Supplementary Concept]
- pulmonary atresia with ventricular septal defect [MeSH concept]
- pulmonary atresia with ventricular septal defect [Disease (Nov.)]

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

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