Supravalvular aortic stenosis

Symptom Information:

Symptom ID: HPO:0004381
Synonyms:
Aortic supravalvular stenosis [Orphanet:34140]
Supravalvar aortic stenosis (disorder) [Orphanet:34140]
Congenital supravalvular aortic stenosis (disorder) [Orphanet:34140]
Congenital supravalvular aortic stenosis [Orphanet:34140]
Supravalvular aortic stenosis [Orphanet:34140]
Supravalvular aortic stenosis [OMIM:Supravalvular aortic stenosis]
Aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis [Orphanet:34140]
Supravalvular aortic stenosis [MedDRA:10042598]
Supravalvar aortic stenosis [OMIM:Supravalvar aortic stenosis]
Quality:
Cross references:
HPO:0001682 "Subvalvular aortic stenosis" [Orphanet:34140]
Orphanet:34140 "Aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis" [Orphanet:34140]
OMIM: "Supravalvular aortic stenosis" [OMIM:Supravalvular aortic stenosis]
OMIM: "Supravalvar aortic stenosis" [OMIM:Supravalvar aortic stenosis]
UMLS:C1305147 "Congenital supravalvular aortic stenosis" [Orphanet:34140]
UMLS:C0003499 "Supravalvular aortic stenosis" [Orphanet:34140]
Is a (Direct Parents):
MedDRA Aortic valvular disorders
HPO         Aortic valve stenosis
Orphanet Aortic valve stenosis
Orphanet Abnormality of the heart valves
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 heart valves(HPO:0001654)
                   Abnormality of the aortic valve(HPO:0001646)
                      Aortic valve stenosis(HPO:0001650)
                         Supravalvular aortic stenosis(HPO:0004381)
MedDRA:
Cardiac disorders(MedDRA:10007541)
    Cardiac valve disorders(MedDRA:10046973)
       Aortic valvular disorders(MedDRA:10002911)
          Supravalvular aortic stenosis(HPO:0004381)
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

3-methylglutaconic aciduria type 4 (Orphanet:67048)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Cardiomyopathy, familial hypertrophic, 1 (OMIM:192600)
Supravalvular aortic stenosis (Orphanet:3193)
Williams syndrome (Orphanet:904)