From HPO
Subdural hemorrhage- MedGen UID:
- 6775
- •Concept ID:
- C0018946
- •
- Pathologic Function
Hemorrhage occurring between the dura mater and the arachnoid mater.
Small for gestational age- MedGen UID:
- 65920
- •Concept ID:
- C0235991
- •
- Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Decreased nerve conduction velocity- MedGen UID:
- 347509
- •Concept ID:
- C1857640
- •
- Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
EEG with burst suppression- MedGen UID:
- 369943
- •Concept ID:
- C1969156
- •
- Finding
The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.
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.
Congenital contracture- MedGen UID:
- 83066
- •Concept ID:
- C0332878
- •
- Congenital Abnormality
One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Thin ribs- MedGen UID:
- 98095
- •Concept ID:
- C0426818
- •
- Finding
Ribs with a reduced diameter.
Centrally nucleated skeletal muscle fibers- MedGen UID:
- 330782
- •Concept ID:
- C1842170
- •
- Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Decreased fetal movement- MedGen UID:
- 68618
- •Concept ID:
- C0235659
- •
- Finding
An abnormal reduction in quantity or strength of fetal movements.
Retinal hemorrhage- MedGen UID:
- 11210
- •Concept ID:
- C0035317
- •
- Pathologic Function
Hemorrhage occurring within the retina.
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality