From HPO
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Urethral diverticulum- MedGen UID:
- 57776
- •Concept ID:
- C0152443
- •
- Disease or Syndrome
The presence of a diverticulum (sac or pouch) in the wall of the urethra.
Hydroureter- MedGen UID:
- 101073
- •Concept ID:
- C0521620
- •
- Anatomical Abnormality
The distention of the ureter with urine.
Patent foramen ovale- MedGen UID:
- 8891
- •Concept ID:
- C0016522
- •
- Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect- MedGen UID:
- 42366
- •Concept ID:
- C0018818
- •
- Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Mitral regurgitation- MedGen UID:
- 7670
- •Concept ID:
- C0026266
- •
- Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Mitral valve prolapse- MedGen UID:
- 7671
- •Concept ID:
- C0026267
- •
- Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Mitral stenosis- MedGen UID:
- 44466
- •Concept ID:
- C0026269
- •
- Disease or Syndrome
An abnormal narrowing of the orifice of the mitral valve.
Tricuspid regurgitation- MedGen UID:
- 11911
- •Concept ID:
- C0040961
- •
- Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Tricuspid valve prolapse- MedGen UID:
- 11912
- •Concept ID:
- C0040962
- •
- Disease or Syndrome
One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.
Tricuspid stenosis- MedGen UID:
- 21678
- •Concept ID:
- C0040963
- •
- Disease or Syndrome
A narrowing of the orifice of the tricuspid valve of the heart.
Left atrial enlargement- MedGen UID:
- 536845
- •Concept ID:
- C0238705
- •
- Finding
Increase in size of the left atrium.
Tricuspid atresia- MedGen UID:
- 67034
- •Concept ID:
- C0243002
- •
- Congenital Abnormality
Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
Pulmonary artery atresia- MedGen UID:
- 82723
- •Concept ID:
- C0265908
- •
- Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Double inlet left ventricle- MedGen UID:
- 488862
- •Concept ID:
- C0344622
- •
- Congenital Abnormality
The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.
Muscular ventricular septal defect- MedGen UID:
- 473253
- •Concept ID:
- C0685707
- •
- Congenital Abnormality
The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
Valvular pulmonary stenosis- MedGen UID:
- 348595
- •Concept ID:
- C1860336
- •
- Congenital Abnormality
A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Arteria lusoria- MedGen UID:
- 1372352
- •Concept ID:
- C2004632
- •
- Congenital Abnormality
Usually, three large arteries arise from the arch of the aorta
Subpulmonary stenosis- MedGen UID:
- 757434
- •Concept ID:
- C3165028
- •
- Disease or Syndrome
A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve.
Left aortic arch with cervical origin of the right subclavian artery- MedGen UID:
- 868870
- •Concept ID:
- C4023281
- •
- Anatomical Abnormality
Hypoplasia of right ventricle- MedGen UID:
- 903846
- •Concept ID:
- C4082954
- •
- Anatomical Abnormality
Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Cyanosis- MedGen UID:
- 1189
- •Concept ID:
- C0010520
- •
- Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Hydrops fetalis- MedGen UID:
- 6947
- •Concept ID:
- C0020305
- •
- Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system