From HPO
Renal agenesis- MedGen UID:
- 154237
- •Concept ID:
- C0542519
- •
- Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Hypoplasia of the bladder- MedGen UID:
- 340845
- •Concept ID:
- C1855335
- •
- Finding
Underdevelopment of the urinary bladder.
Sex reversal- MedGen UID:
- 868596
- •Concept ID:
- C4022995
- •
- Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Ovotestis- MedGen UID:
- 1634511
- •Concept ID:
- C4551490
- •
- Congenital Abnormality
A gonad that contains both ovarian follicles and testicular tubular elements.
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.
Pulmonary artery stenosis- MedGen UID:
- 65965
- •Concept ID:
- C0238397
- •
- Anatomical Abnormality
An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
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.
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Congenital diaphragmatic hernia- MedGen UID:
- 68625
- •Concept ID:
- C0235833
- •
- Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Pulmonary hypoplasia- MedGen UID:
- 78574
- •Concept ID:
- C0265783
- •
- Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Bilateral lung agenesis- MedGen UID:
- 867250
- •Concept ID:
- C4021610
- •
- Congenital Abnormality
Bilateral lack of development of the lungs.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Cleft lip- MedGen UID:
- 1370297
- •Concept ID:
- C4321245
- •
- Anatomical Abnormality
A gap in the lip or lips.
Congenital pulmonary airway malformation- MedGen UID:
- 8225
- •Concept ID:
- C0010668
- •
- Congenital Abnormality
Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.
Oligohydramnios- MedGen UID:
- 86974
- •Concept ID:
- C0079924
- •
- Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Adrenal gland agenesis- MedGen UID:
- 472999
- •Concept ID:
- C0266273
- •
- Congenital Abnormality
Absent development of the adrenal gland.
- Abnormality of head or neck
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality