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Results: 1 to 20 of 52

1.

Thyroid Agenesis

MedGen UID:
155447
Concept ID:
C0749420
Congenital Abnormality
2.

Congenital atresia

MedGen UID:
66211
Concept ID:
C0243066
Congenital Abnormality
3.

Choanal atresia

A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous. [from MeSH]

MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality
4.

Cleft Palate

A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development. [from NCI]

MedGen UID:
3107
Concept ID:
C0008925
Disease or Syndrome
5.

Cleft palate

Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. [from ORDO]

MedGen UID:
832045
Concept ID:
CN200780
Finding
6.

Cleft palate

MedGen UID:
776579
Concept ID:
C2240378
Finding
7.

Choanal atresia

Absence or abnormal closure of the choana (the posterior nasal aperture). [from HPO]

MedGen UID:
504447
Concept ID:
CN000423
Finding
8.

Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [from HPO]

MedGen UID:
504379
Concept ID:
CN000170
Finding
9.

Orofacial cleft 11

Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995). [from OMIM]

MedGen UID:
436944
Concept ID:
C2677434
Disease or Syndrome
10.

Thyroid agenesis

The congenital absence of the thyroid gland. [from HPO]

MedGen UID:
425966
Concept ID:
CN007197
Finding
11.

Cleft palate, isolated

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570. [from OMIM]

MedGen UID:
332392
Concept ID:
C1837218
Finding
12.

Thyroid agenesis

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism). [from OMIM]

MedGen UID:
289647
Concept ID:
C1563716
Disease or Syndrome
13.

Hypoplasia of thyroid

MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
14.

Thyroglobulin

A glycoprotein hormone that is synthesized by the thyroid follicular cell and is incorporated, by peptide bonds, with thyroid hormones (T3 and T4). Thyroid hormone release occurs when T3 and T4 are enzymatically split from thyroglobulin. Thyroglobulin levels serve as a tumor marker for monitoring the status of differentiated thyroid carcinomas. [from NCI]

MedGen UID:
52746
Concept ID:
C0040123
Pharmacologic Substance
15.

Congenital hypothyroidism

Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, abnormally located, or severely reduced in size (hypoplastic). In the remaining cases, a normal-sized or enlarged thyroid gland is present, but production of thyroid hormones is decreased or absent. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. In the United States and many other countries, all newborns are tested for congenital hypothyroidism. If treatment begins in the first month after birth, infants usually develop normally.
[from GHR]

MedGen UID:
41344
Concept ID:
C0010308
Congenital Abnormality
16.

Thyrotropin

A hormone produced by the pituitary gland. TSH stimulates the release of thyroid hormone from thyroglobulin. It also stimulates the growth of thyroid follicular cells. An abnormal TSH level may mean that the thyroid hormonal regulation system is out of control, usually as a result of a benign condition (hyperthyroidism or hypothyroidism). [from NCI]

MedGen UID:
21551
Concept ID:
C0040160
Pharmacologic Substance
17.

Hypothyroidism

A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. [from MeSH]

MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
18.

Congenital hypothyroidism

Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth. [from ORDO]

MedGen UID:
832726
Concept ID:
CN227539
Congenital Abnormality
19.

Hypoplasia

Incomplete or arrested development of an organ or a part [from CHV]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
20.

Congenital hypothyroidism

A type of hypothyroidism with congenital onset. [from HPO]

MedGen UID:
504626
Concept ID:
CN000797
Finding

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