Atrioventricular canal defect

Symptom Information:

Symptom ID: HPO:0006695
Synonyms:
Atrioventricular septal defect [HPO:0006695]
Atrioventricular septal defect, partial [HPO:0006695]
Endocardial cushion defect [HPO:0006695]
Atrioventricular septal defect [Orphanet:34500]
Atrioventricular septal defect and common atrioventricular junction (disorder) [Orphanet:34500]
Common atrioventricular canal [Orphanet:34500]
Atrioventricular septal defect and common atrioventricular junction [Orphanet:34500]
Atrioventricular septal defect [OMIM:Atrioventricular septal defect]
Atrioventricular septal defect, partial [OMIM:Atrioventricular septal defect, partial]
atrioventricular septal defect [OMIM:atrioventricular septal defect]
Atrioventricular canal [Orphanet:34500]
Atrioventricular septal defect [MedDRA:10063836]
Endocardial cushion defect NOS [MedDRA:10063836]
Endocardial cushion defect, unspecified type [MedDRA:10063836]
Endocardial cushion defects [MedDRA:10063836]
Other endocardial cushion defects [MedDRA:10063836]
Atrioventricular canal [MedDRA:10063836]
Atrioventricular septal defect (AVSD) [OMIM:Atrioventricular septal defect (AVSD)]
Atrioventricular septal defect (in some patients) [OMIM:Atrioventricular septal defect (in some patients)]
Quality:
Cross references:
HPO:0001674 "Complete atrioventricular canal defect" [Orphanet:34500]
Orphanet:34500 "Atrioventricular canal" [Orphanet:34500]
OMIM: "Atrioventricular septal defect" [OMIM:Atrioventricular septal defect]
OMIM: "Atrioventricular septal defect, partial" [OMIM:Atrioventricular septal defect, partial]
OMIM: "atrioventricular septal defect" [OMIM:atrioventricular septal defect]
OMIM: "Atrioventricular septal defect (AVSD)" [OMIM:Atrioventricular septal defect (AVSD)]
OMIM: "Atrioventricular septal defect (in some patients)" [OMIM:Atrioventricular septal defect (in some patients)]
UMLS:C0221215 "Common atrioventricular canal" [Orphanet:34500]
UMLS:C0344783 "Atrioventricular septal defect and common atrioventricular junction" [Orphanet:34500]
Is a (Direct Parents):
HPO         Abnormality of the cardiac septa
Orphanet Congenital septal defect
MedDRA Myocardial disorders NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the cardiovascular system(HPO:0001626)
          Abnormal heart morphology(HPO:0001627)
             obsolete Malformation of the heart and great vessels(HPO:0002564)
                Abnormality of the cardiac septa(HPO:0001671)
                   Atrioventricular canal defect(HPO:0006695)
MedDRA:
Cardiac disorders(MedDRA:10007541)
    Abnormality of the myocardium(HPO:0001637)
       Myocardial disorders NEC(MedDRA:10028590)
          Atrioventricular canal defect(HPO:0006695)
Database Frequency: 27 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
3C syndrome (Orphanet:7)
8p23.1 microdeletion syndrome (Orphanet:251071)
ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
ATRIOVENTRICULAR SEPTAL DEFECT 3 (OMIM:600309)
ATRIOVENTRICULAR SEPTAL DEFECT 5 (OMIM:614474)
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
CODAS syndrome (Orphanet:1458)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Congenital heart block (Orphanet:60041)
Distal monosomy 3p (Orphanet:1620)
Ellis Van Creveld syndrome (Orphanet:289)
Frontometaphyseal dysplasia (Orphanet:1826)
HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Holt-Oram syndrome (Orphanet:392)
Ivemark syndrome (Orphanet:97548)
KABUKI SYNDROME 2 (OMIM:300867)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Smith-Lemli-Opitz syndrome (Orphanet:818)