Ventricular septal defect

Basic details

Preferred term: Ventricular septal defect
Alt. terms: Hole in heart wall separating two lower heart chambers | Ventricular septal defects | Ventriculoseptal defect | VSD

HPO term: Ventricular septal defect
HPO code: HP:0001629

GenIA ID: 1975
Last updated on: 2021-08-02 21:50:33

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
102927 M 215028 - Ventricular septal defect T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P16]; PMID:37419334 [P16(22)]
102928 M 215029 - Ventricular septal defect T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P17]
104970 M 215622tree icon 9 Dutch Ventricular septal defect NFKB1 insufficiency PMID:32278790 [Fam.NA:III.13(III.13)]; PMID:26279205 [Fam.NL1:III.12(34)]; PMID:29403474 [Fam.NL1 (5):III.12(34)]; PMID:11583829 [Fam.1:III.12(III:12)]; PMID:16639407 [Fam.1:III.12(34)]; PMID:150198 [Fam.AA:III.12(038)]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).