From HPO
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.
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.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypertonia- MedGen UID:
- 10132
- •Concept ID:
- C0026826
- •
- Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Abnormal facial shape- MedGen UID:
- 98409
- •Concept ID:
- C0424503
- •
- Finding
An abnormal morphology (form) of the face or its components.
Widely-spaced maxillary central incisors- MedGen UID:
- 322746
- •Concept ID:
- C1835762
- •
- Finding
Increased distance between the maxillary central permanent incisor tooth.
Thick lower lip vermilion- MedGen UID:
- 326567
- •Concept ID:
- C1839739
- •
- Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Low anterior hairline- MedGen UID:
- 331280
- •Concept ID:
- C1842366
- •
- Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Short philtrum- MedGen UID:
- 350006
- •Concept ID:
- C1861324
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Sacral dimple- MedGen UID:
- 98428
- •Concept ID:
- C0426848
- •
- Finding
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
Inversion of nipple- MedGen UID:
- 82844
- •Concept ID:
- C0269269
- •
- Anatomical Abnormality
The presence of nipples that instead of pointing outward are retracted inwards.
Glaucoma- MedGen UID:
- 42224
- •Concept ID:
- C0017601
- •
- Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Hypermetropia- MedGen UID:
- 43780
- •Concept ID:
- C0020490
- •
- Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of head or neck
- Abnormality of the breast
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system