From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Cubitus valgus- MedGen UID:
- 490152
- •Concept ID:
- C0158465
- •
- Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
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.
Hypertrophic cardiomyopathy- MedGen UID:
- 2881
- •Concept ID:
- C0007194
- •
- Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
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.
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.
Left ventricular hypertrophy- MedGen UID:
- 57442
- •Concept ID:
- C0149721
- •
- Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
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).
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).
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.
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.
Prolonged partial thromboplastin time- MedGen UID:
- 66815
- •Concept ID:
- C0240671
- •
- Finding
Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
Reduced factor XI activity- MedGen UID:
- 1368629
- •Concept ID:
- C4317093
- •
- Finding
Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum- MedGen UID:
- 57643
- •Concept ID:
- C0158731
- •
- Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Relative macrocephaly- MedGen UID:
- 338607
- •Concept ID:
- C1849075
- •
- Congenital Abnormality
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Pectus excavatum- MedGen UID:
- 781174
- •Concept ID:
- C2051831
- •
- Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Pleural effusion- MedGen UID:
- 10805
- •Concept ID:
- C0032227
- •
- Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
Webbed neck- MedGen UID:
- 113154
- •Concept ID:
- C0221217
- •
- Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
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).
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
Narrow forehead- MedGen UID:
- 326956
- •Concept ID:
- C1839758
- •
- Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Underdeveloped supraorbital ridges- MedGen UID:
- 349384
- •Concept ID:
- C1861869
- •
- Congenital Abnormality
Flatness of the supraorbital portion of the frontal bones.
Hyperpigmentation of the skin- MedGen UID:
- 57992
- •Concept ID:
- C0162834
- •
- Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Cafe-au-lait spot- MedGen UID:
- 113157
- •Concept ID:
- C0221263
- •
- Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Hyperextensible skin- MedGen UID:
- 66023
- •Concept ID:
- C0241074
- •
- Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Keratosis pilaris- MedGen UID:
- 82664
- •Concept ID:
- C0263383
- •
- Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Curly hair- MedGen UID:
- 488919
- •Concept ID:
- C0558165
- •
- Finding
Hyperkeratosis- MedGen UID:
- 209030
- •Concept ID:
- C0870082
- •
- Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Palmoplantar cutis laxa- MedGen UID:
- 341602
- •Concept ID:
- C1856714
- •
- Finding
Loose, wrinkled skin of hands and feet.
Increased nuchal translucency- MedGen UID:
- 869253
- •Concept ID:
- C4023676
- •
- Finding
Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Prominent corneal nerve fibers- MedGen UID:
- 866878
- •Concept ID:
- C4021233
- •
- Anatomical Abnormality
Abnormal prominence of the corneal nerve fibers.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality