From HPO
Toe syndactyly- MedGen UID:
- 75581
- •Concept ID:
- C0265660
- •
- Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Bilateral single transverse palmar creases- MedGen UID:
- 354661
- •Concept ID:
- C1862095
- •
- Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
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.
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.
Thoracic aortic aneurysm- MedGen UID:
- 56525
- •Concept ID:
- C0162872
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
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).
Unbalanced atrioventricular canal defect- MedGen UID:
- 482570
- •Concept ID:
- C3280940
- •
- Finding
Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).
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.
Left superior vena cava draining directly to the left atrium- MedGen UID:
- 868828
- •Concept ID:
- C4023238
- •
- Congenital Abnormality
A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.
Anomalous pulmonary venous return- MedGen UID:
- 1641363
- •Concept ID:
- C4551905
- •
- Congenital Abnormality
A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Isomerism- MedGen UID:
- 1634559
- •Concept ID:
- C4554010
- •
- Congenital Abnormality
Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.
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.
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.
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Subglottic stenosis- MedGen UID:
- 68668
- •Concept ID:
- C0238441
- •
- Anatomical Abnormality
Congenital laryngomalacia- MedGen UID:
- 120500
- •Concept ID:
- C0264303
- •
- Anatomical Abnormality
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Asplenia- MedGen UID:
- 1830315
- •Concept ID:
- C5779621
- •
- Anatomical Abnormality
Absence (aplasia) of the spleen.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Long face- MedGen UID:
- 324419
- •Concept ID:
- C1836047
- •
- Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Solitary median maxillary central incisor syndrome- MedGen UID:
- 326686
- •Concept ID:
- C1840235
- •
- Congenital Abnormality
A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.
Broad forehead- MedGen UID:
- 338610
- •Concept ID:
- C1849089
- •
- Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality