From HPO
Pes planus- MedGen UID:
- 42034
- •Concept ID:
- C0016202
- •
- Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Hallux valgus- MedGen UID:
- 5416
- •Concept ID:
- C0018536
- •
- Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Macrotia- MedGen UID:
- 488785
- •Concept ID:
- C0152421
- •
- Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Prominent antihelix- MedGen UID:
- 335147
- •Concept ID:
- C1845272
- •
- Finding
The presence of an abnormally prominent antihelix.
Stahl ear- MedGen UID:
- 349571
- •Concept ID:
- C1862689
- •
- Congenital Abnormality
The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.
Underfolded superior helices- MedGen UID:
- 870218
- •Concept ID:
- C4024655
- •
- Anatomical Abnormality
A condition in which the superior portion of the helix is folded over to a lesser degree than normal.
Athetosis- MedGen UID:
- 2115
- •Concept ID:
- C0004158
- •
- Disease or Syndrome
A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Clonus- MedGen UID:
- 40341
- •Concept ID:
- C0009024
- •
- Sign or Symptom
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
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.
Leukodystrophy- MedGen UID:
- 6070
- •Concept ID:
- C0023520
- •
- Disease or Syndrome
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
Babinski sign- MedGen UID:
- 19708
- •Concept ID:
- C0034935
- •
- Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Intellectual disability, severe- MedGen UID:
- 48638
- •Concept ID:
- C0036857
- •
- Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Spastic paraplegia- MedGen UID:
- 20882
- •Concept ID:
- C0037772
- •
- Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Spastic tetraplegia- MedGen UID:
- 98433
- •Concept ID:
- C0426970
- •
- Disease or Syndrome
Spastic paralysis affecting all four limbs.
Inability to walk- MedGen UID:
- 107860
- •Concept ID:
- C0560046
- •
- Finding
Incapability to ambulate.
Severe global developmental delay- MedGen UID:
- 332436
- •Concept ID:
- C1837397
- •
- Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Intellectual disability, progressive- MedGen UID:
- 337397
- •Concept ID:
- C1846149
- •
- Mental or Behavioral Dysfunction
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Delayed CNS myelination- MedGen UID:
- 867393
- •Concept ID:
- C4021758
- •
- Anatomical Abnormality
Delayed myelination in the central nervous system.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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.
Generalized amyotrophy- MedGen UID:
- 234650
- •Concept ID:
- C1389113
- •
- Disease or Syndrome
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
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.
Neonatal hypotonia- MedGen UID:
- 412209
- •Concept ID:
- C2267233
- •
- Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Drooling- MedGen UID:
- 8484
- •Concept ID:
- C0013132
- •
- Finding
Habitual flow of saliva out of the mouth.
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).
Hypothyroidism- MedGen UID:
- 6991
- •Concept ID:
- C0020676
- •
- Disease or Syndrome
Deficiency of thyroid hormone.
Elevated circulating thyroid-stimulating hormone concentration- MedGen UID:
- 108325
- •Concept ID:
- C0586553
- •
- Finding
Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.
Rotary nystagmus- MedGen UID:
- 116106
- •Concept ID:
- C0240595
- •
- Disease or Syndrome
A form of nystagmus in which the eyeball makes rotary motions around the axis.
Abnormal conjugate eye movement- MedGen UID:
- 337198
- •Concept ID:
- C1845274
- •
- Finding
Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation