From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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.
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.
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.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Blepharitis- MedGen UID:
- 598
- •Concept ID:
- C0005741
- •
- Disease or Syndrome
Inflammation of the eyelids.
Psoriasiform dermatitis- MedGen UID:
- 75508
- •Concept ID:
- C0262985
- •
- Disease or Syndrome
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Decreased HDL cholesterol concentration- MedGen UID:
- 57731
- •Concept ID:
- C0151691
- •
- Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Hypocholesterolemia- MedGen UID:
- 57479
- •Concept ID:
- C0151718
- •
- Disease or Syndrome
An decreased concentration of cholesterol in the blood.
Decreased LDL cholesterol concentration- MedGen UID:
- 776554
- •Concept ID:
- C0853085
- •
- Finding
An decreased concentration of low-density lipoprotein cholesterol in the blood.
Ichthyosis- MedGen UID:
- 7002
- •Concept ID:
- C0020757
- •
- Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Delayed puberty- MedGen UID:
- 46203
- •Concept ID:
- C0034012
- •
- Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Developmental cataract- MedGen UID:
- 3202
- •Concept ID:
- C0009691
- •
- Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
- Abnormality of metabolism/homeostasis
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality