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Items: 9

1.

Hypoproteinemia

A decreased concentration of protein in the blood. [from HPO]

MedGen UID:
43801
Concept ID:
C0020639
Disease or Syndrome; Finding
2.

Gastroesophageal reflux disease

Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999). [from OMIM]

MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
3.

Gastroesophageal reflux

A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. [from HPO]

MedGen UID:
505057
Concept ID:
CN001828
Finding
4.

Iron deficiency anemia

MedGen UID:
504991
Concept ID:
CN001710
Finding
5.

Clubbing

Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. [from HPO]

MedGen UID:
57692
Concept ID:
C0149651
Sign or Symptom
6.

Iron deficiency anemia

Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased. [from MeSH]

MedGen UID:
57668
Concept ID:
C0162316
Disease or Syndrome
7.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration. [from HPO]

MedGen UID:
56401
Concept ID:
C0162119
Finding
8.

Clubbing of fingers

An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract. [from NCI]

MedGen UID:
3129
Concept ID:
C0009080
Anatomical Abnormality; Finding
9.

Sandifer syndrome

A paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood. [from SNOMEDCT_US]

MedGen UID:
90922
Concept ID:
C0338465
Congenital Abnormality; Disease or Syndrome
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