From HPO
Anxiety- MedGen UID:
- 1613
- •Concept ID:
- C0003467
- •
- Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Febrile seizure (within the age range of 3 months to 6 years)- MedGen UID:
- 3232
- •Concept ID:
- C0009952
- •
- Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
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.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Sleep abnormality- MedGen UID:
- 52372
- •Concept ID:
- C0037317
- •
- Sign or Symptom
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Diminished ability to concentrate- MedGen UID:
- 65900
- •Concept ID:
- C0235198
- •
- Finding
Being unable to focus one's attention or mental effort on a particular object or activity.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
Tics- MedGen UID:
- 853666
- •Concept ID:
- C2169806
- •
- Sign or Symptom
Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Plagiocephaly- MedGen UID:
- 1825944
- •Concept ID:
- C2081594
- •
- Finding
Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
Dental crowding- MedGen UID:
- 11850
- •Concept ID:
- C0040433
- •
- Finding
Changes in alignment of teeth in the dental arch
Triangular face- MedGen UID:
- 324383
- •Concept ID:
- C1835884
- •
- Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Broad forehead- MedGen UID:
- 338610
- •Concept ID:
- C1849089
- •
- Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Hirsutism- MedGen UID:
- 42461
- •Concept ID:
- C0019572
- •
- Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Synophrys- MedGen UID:
- 98132
- •Concept ID:
- C0431447
- •
- Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Fetal distress- MedGen UID:
- 5164
- •Concept ID:
- C0015930
- •
- Pathologic Function
An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.
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.
- Abnormality of head or neck
- Abnormality of prenatal development or birth
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system