From HPO
Ankle clonus- MedGen UID:
- 68672
- •Concept ID:
- C0238651
- •
- Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
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.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Poor suck- MedGen UID:
- 324693
- •Concept ID:
- C1837142
- •
- Finding
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Drowsiness- MedGen UID:
- 4390
- •Concept ID:
- C0013144
- •
- Finding
Abnormal feeling of sleepiness or difficulty staying awake.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dyskinesia- MedGen UID:
- 8514
- •Concept ID:
- C0013384
- •
- Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Dystonic disorder- MedGen UID:
- 3940
- •Concept ID:
- C0013421
- •
- Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Gliosis- MedGen UID:
- 4899
- •Concept ID:
- C0017639
- •
- Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
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.
Falls- MedGen UID:
- 39084
- •Concept ID:
- C0085639
- •
- Finding
A sudden movement downward, usually resulting in injury.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Primitive reflex- MedGen UID:
- 333065
- •Concept ID:
- C1838319
- •
- Finding
The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.
Brisk reflexes- MedGen UID:
- 382164
- •Concept ID:
- C2673700
- •
- Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
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.
Apnea- MedGen UID:
- 2009
- •Concept ID:
- C0003578
- •
- Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Hypercapnia- MedGen UID:
- 9359
- •Concept ID:
- C0020440
- •
- Sign or Symptom
Abnormally elevated blood carbon dioxide (CO2) level.
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.
Apneic episodes in infancy- MedGen UID:
- 814310
- •Concept ID:
- C3807980
- •
- Finding
Recurrent episodes of apnea occurring during infancy.
Increased circulating lactate concentration- MedGen UID:
- 332209
- •Concept ID:
- C1836440
- •
- Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Increased serum pyruvate- MedGen UID:
- 376596
- •Concept ID:
- C1849488
- •
- Finding
An increased concentration of pyruvate in the blood.
Weak cry- MedGen UID:
- 65892
- •Concept ID:
- C0234860
- •
- Finding
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Vertical nystagmus- MedGen UID:
- 75749
- •Concept ID:
- C0271386
- •
- Disease or Syndrome
Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.
Decreased activity of mitochondrial complex I- MedGen UID:
- 393796
- •Concept ID:
- C2677650
- •
- Finding
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
- Abnormal cellular phenotype
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice