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
PARENT terms
TERM
Ventricular septal defect
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 | 215622![]() |
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).