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Items: 1 to 20 of 68

1.

Branchial cleft, cyst or fistula; preauricular sinus

MedGen UID:
510595
Concept ID:
C0158595
Disease or Syndrome
2.

Recurrence

The return of a sign, symptom, or disease after a remission. [from MeSH]

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
3.

VACTERL association

VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands.Some of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult. [from GTR]

MedGen UID:
365892
Concept ID:
C1735591
Congenital Abnormality
4.

Right bundle branch block

A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. [from HPO]

MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
5.

Triphalangeal thumb

A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. [from HPO]

MedGen UID:
66029
Concept ID:
C0241397
Congenital Abnormality
6.

Polydactyly

A congenital abnormality characterized by more than 5 digits on a hand or foot. [from NCI]

MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
7.

Rectovaginal fistula

An abnormal anatomical passage between the RECTUM and the VAGINA. [from MeSH]

MedGen UID:
11152
Concept ID:
C0034895
Anatomical Abnormality; Finding
8.

Pregnancy

The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. [from NCI]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
9.

Sinus

Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body. [from MeSH]

MedGen UID:
5201
Concept ID:
C0016169
Anatomical Abnormality
10.

Esophageal fistula

Abnormal passage communicating with the ESOPHAGUS. The most common type is TRACHEOESOPHAGEAL FISTULA between the esophagus and the TRACHEA. [from MeSH]

MedGen UID:
4546
Concept ID:
C0014856
Anatomical Abnormality
11.

Bundle branch block

A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles. [from MeSH]

MedGen UID:
2752
Concept ID:
C0006384
Disease or Syndrome; Finding
12.

Imperforate anus

A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME. [from MeSH]

MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
13.

Asymmetric crying face

Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. [from HPO]

MedGen UID:
868994
Concept ID:
C4023410
14.

Spondylocostal dysostosis 1, autosomal recessive

Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia. [from GTR]

MedGen UID:
834049
Concept ID:
CN032975
Disease or Syndrome
15.

VACTERL/VATER association

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. [from ORDO]

MedGen UID:
797581
Concept ID:
CN206312
Disease or Syndrome
16.

Polydactyly

MedGen UID:
776570
Concept ID:
C2117329
Finding
17.

Right

Being located on the right side of the body. [from HPO]

MedGen UID:
619189
Concept ID:
C0444532
Spatial Concept
18.

Left

Being located on the left side of the body. [from HPO]

MedGen UID:
618170
Concept ID:
C0443246
Spatial Concept
19.

Abnormality of the vertebrae

An abnormality of one or more of the vertebrae. [from HPO]

MedGen UID:
510645
Concept ID:
C0158775
Congenital Abnormality
20.

Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. [from HPO]

MedGen UID:
505058
Concept ID:
CN001831
Finding
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