Urethral atresia

Symptom Information:

Symptom ID: HPO:0000068
Synonyms:
Urethra stenosis [Orphanet:37760]
Urethral stricture (disorder) [Orphanet:37760]
Urethral stenosis (disorder) [Orphanet:37760]
Urethral Stricture [Orphanet:37760]
Urethral atresia [OMIM:Urethral atresia]
Urethral anomalies/stenosis/posterior urethral valves/megalocystis [Orphanet:37760]
Urethral stenosis [Orphanet:37760]
Urethral stenosis [MedDRA:10065584]
Other specified causes of urethral stricture [MedDRA:10065584]
Urethral stricture [MedDRA:10065584]
Urethral stricture (excl congenital) [MedDRA:10065584]
Urethral stricture NOS [MedDRA:10065584]
Urethral stricture, unspecified [MedDRA:10065584]
Urethral atresia (in males and females) [OMIM:Urethral atresia (in males and females)]
Urethral stenosis (rare) [OMIM:Urethral stenosis (rare)]
Urethral strictures [OMIM:Urethral strictures]
Bladder distension [MedDRA:10049731]
Megalocystis [Orphanet:37760]
Bladder distention (finding) [Orphanet:37760]
Bladder distention [Orphanet:37760]
Megacystis [Orphanet:37760]
Megalocystis [OMIM:Megalocystis]
Urethral atresia [MedDRA:10064895]
Quality:
Cross references:
HPO:0008661 "Urethral stenosis" [Orphanet:37760]
Orphanet:37760 "Urethral anomalies/stenosis/posterior urethral valves/megalocystis" [Orphanet:37760]
OMIM: "Urethral atresia" [OMIM:Urethral atresia]
OMIM: "Urethral atresia (in males and females)" [OMIM:Urethral atresia (in males and females)]
OMIM: "Urethral stenosis (rare)" [OMIM:Urethral stenosis (rare)]
OMIM: "Urethral strictures" [OMIM:Urethral strictures]
OMIM: "Megalocystis" [OMIM:Megalocystis]
UMLS:C0041974 "Urethral Stricture" [Orphanet:37760]
UMLS:C0005687 "Bladder distention" [Orphanet:37760]
UMLS:C1855311 "Megacystis" [Orphanet:37760]
Is a (Direct Parents):
HPO         Abnormality of the urethra
MedDRA Renal and urinary tract disorders congenital NEC
Orphanet Bladder and ureter anomalies
MedDRA Structural and obstructive urethral disorders (excl congenital)
Orphanet Megacystis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the lower urinary tract(HPO:0010936)
                Abnormality of the urethra(HPO:0000795)
                   Urethral atresia(HPO:0000068)
          Abnormality of the genital system(HPO:0000078)
             Abnormal genital system morphology(HPO:0012243)
                Abnormality of the male genitalia(HPO:0010461)
                   Abnormality of male external genitalia(HPO:0000032)
                      Abnormality of the urethra(HPO:0000795)
                         Urethral atresia(HPO:0000068)
                Abnormal external genitalia(HPO:0000811)
                   Abnormality of male external genitalia(HPO:0000032)
                      Abnormality of the urethra(HPO:0000795)
                         Urethral atresia(HPO:0000068)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Renal and urinary tract disorders congenital(MedDRA:10038360)
       Renal and urinary tract disorders congenital NEC(MedDRA:10038361)
          Urethral atresia(HPO:0000068)
Renal and urinary disorders(MedDRA:10038359)
    Urethral disorders (excl calculi)(MedDRA:10046447)
       Structural and obstructive urethral disorders (excl congenital)(MedDRA:10042256)
          Urethral atresia(HPO:0000068)
Database Frequency: 8 / 7739
Resource:

All diseases associated with this symptom:

Alström syndrome (Orphanet:64)
Bilateral renal agenesis (Orphanet:1848)
Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257)
MACS syndrome (Orphanet:217335)
Polycystic ovaries - urethral sphincter dysfunction (Orphanet:2795)
Spondylocostal dysostosis - anal and genitourinary malformations (Orphanet:94095)
Tetraamelia - multiple malformations (Orphanet:3301)
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)