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Items: 7

1.

Congenital central hypothyroidism

Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. [from ORDO]

MedGen UID:
927869
Concept ID:
C4302200
Disease or Syndrome
2.

Highly elevated creatine kinase

An increased CPK level between 4X and 50X above the upper normal level. [from HPO]

MedGen UID:
868173
Concept ID:
C4022565
Finding
3.

Decreased thyroid-stimulating hormone level

Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. [from HPO]

MedGen UID:
717708
Concept ID:
C1295607
Finding
4.

Neonatal thyrotoxicosis

A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. [from NCI]

MedGen UID:
510684
Concept ID:
C0158983
Disease or Syndrome
5.

Central hypothyroidism

A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. [from HPO]

MedGen UID:
488836
Concept ID:
C0271801
Disease or Syndrome
6.

Tolosa-Hunt syndrome

An ophthalmoplegic syndrome, affecting all age groups, with characteristics of acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others. [from SNOMEDCT_US]

MedGen UID:
21197
Concept ID:
C0040381
Disease or Syndrome
7.

Hypothyroidism

Deficiency of thyroid hormone. [from HPO]

MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
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