From HPO
Tachycardia- MedGen UID:
- 21453
- •Concept ID:
- C0039231
- •
- Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
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.
Hyperactivity- MedGen UID:
- 98406
- •Concept ID:
- C0424295
- •
- Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
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.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Accelerated skeletal maturation- MedGen UID:
- 154262
- •Concept ID:
- C0545053
- •
- Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Anti-thyroid peroxidase antibody positivity- MedGen UID:
- 1392952
- •Concept ID:
- C4476743
- •
- Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.
Anti-thyroglobulin antibody positivity- MedGen UID:
- 1670955
- •Concept ID:
- C4732836
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
Increased circulating thyroglobulin concentration- MedGen UID:
- 1375023
- •Concept ID:
- C4476805
- •
- Finding
An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.
Pretibial myxedema- MedGen UID:
- 450990
- •Concept ID:
- C0033103
- •
- Disease or Syndrome
A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.
Premature birth- MedGen UID:
- 57721
- •Concept ID:
- C0151526
- •
- Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Goiter- MedGen UID:
- 42270
- •Concept ID:
- C0018021
- •
- Disease or Syndrome
An enlargement of the thyroid gland.
Hyperthyroidism- MedGen UID:
- 6972
- •Concept ID:
- C0020550
- •
- Disease or Syndrome
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
Thyroid hyperplasia- MedGen UID:
- 206817
- •Concept ID:
- C1112776
- •
- Finding
Hyperplasia of the thyroid gland.
Decreased thyroid-stimulating hormone level- MedGen UID:
- 717708
- •Concept ID:
- C1295607
- •
- Finding
Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
Increased circulating free T3- MedGen UID:
- 867466
- •Concept ID:
- C4021843
- •
- Finding
An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
Increased circulating T4 concentration- MedGen UID:
- 1619052
- •Concept ID:
- C4531079
- •
- Finding
An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- 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
- Growth abnormality