From HPO
Ureteral duplication- MedGen UID:
- 66380
- •Concept ID:
- C0221365
- •
- Congenital Abnormality
A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
Ureteral stenosis- MedGen UID:
- 105481
- •Concept ID:
- C0521618
- •
- Anatomical Abnormality
The presence of a stenotic, i.e., constricted ureter.
Coarctation of aorta- MedGen UID:
- 1617
- •Concept ID:
- C0003492
- •
- Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Dextrocardia- MedGen UID:
- 4255
- •Concept ID:
- C0011813
- •
- Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Double outlet right ventricle- MedGen UID:
- 41649
- •Concept ID:
- C0013069
- •
- Congenital Abnormality
Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
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.
Single ventricle- MedGen UID:
- 56289
- •Concept ID:
- C0152424
- •
- Congenital Abnormality
The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.
Partial anomalous pulmonary venous return- MedGen UID:
- 450995
- •Concept ID:
- C0158634
- •
- Congenital Abnormality
A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.
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.
Ascending tubular aorta aneurysm- MedGen UID:
- 163631
- •Concept ID:
- C0856747
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
Atrioventricular canal defect- MedGen UID:
- 235591
- •Concept ID:
- C1389016
- •
- Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Dextrotransposition of the great arteries- MedGen UID:
- 758887
- •Concept ID:
- C3531771
- •
- Congenital Abnormality
A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.
Atrial reentry tachycardia- MedGen UID:
- 868813
- •Concept ID:
- C4023223
- •
- Pathologic Function
Congenital total pulmonary venous return anomaly- MedGen UID:
- 1648157
- •Concept ID:
- C4551903
- •
- Disease or Syndrome
Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Abdominal situs inversus- MedGen UID:
- 52359
- •Concept ID:
- C0037221
- •
- Congenital Abnormality
A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.
Right atrial isomerism- MedGen UID:
- 465274
- •Concept ID:
- C3178806
- •
- Congenital Abnormality
Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.
Abdominal situs ambiguus- MedGen UID:
- 1622585
- •Concept ID:
- C4531036
- •
- Anatomical Abnormality
An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.
Intestinal malrotation- MedGen UID:
- 113153
- •Concept ID:
- C0221210
- •
- Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Duodenal atresia- MedGen UID:
- 75602
- •Concept ID:
- C0266174
- •
- Congenital Abnormality
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Cerebellar hypoplasia- MedGen UID:
- 120578
- •Concept ID:
- C0266470
- •
- Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Absence of the sacrum- MedGen UID:
- 83373
- •Concept ID:
- C0344490
- •
- Congenital Abnormality
Absence (aplasia) of the sacrum.
Bilateral trilobed lung- MedGen UID:
- 756785
- •Concept ID:
- C3164377
- •
- Congenital Abnormality
Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.
Asplenia- MedGen UID:
- 108652
- •Concept ID:
- C0600031
- •
- Congenital Abnormality
Absence (aplasia) of the spleen.
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality