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Items: 11

1.

Pulmonary embolism

A pulmonary embolism is a sudden blockage in a lung artery. The cause is usually a blood clot in the leg called a deep vein thrombosis that breaks loose and travels through the bloodstream to the lung. Pulmonary embolism is a serious condition that can cause. -Permanent damage to the affected lung . -Low oxygen levels in your blood . -Damage to other organs in your body from not getting enough oxygen . If a clot is large, or if there are many clots, pulmonary embolism can cause death. . Half the people who have pulmonary embolism have no symptoms. If you do have symptoms, they can include shortness of breath, chest pain or coughing up blood. Symptoms of a blood clot include warmth, swelling, pain, tenderness and redness of the leg. The goal of treatment is to break up clots and help keep other clots from forming. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
11027
Concept ID:
C0034065
Finding
2.

Pulmonary embolism

MedGen UID:
505155
Concept ID:
CN001998
Finding
3.

CHARGE association

CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotrophic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%). Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Congenital Abnormality; Disease or Syndrome
4.

Abnormality of glycosaminoglycan metabolism

Abnormality of glycosaminoglycan metabolism. [from HPO]

MedGen UID:
870869
Concept ID:
C4025330
Finding
5.

Abnormality of isoleucine metabolism

An abnormality of a isoleucine metabolic process. [from HPO]

MedGen UID:
869235
Concept ID:
C4023658
Finding
6.

Abnormality of polysaccharide metabolism

An abnormality of the metabolism of polysaccharide. [from HPO]

MedGen UID:
869178
Concept ID:
C4023600
Finding
7.

Abnormality of mucopolysaccharide metabolism

An abnormality of the metabolism of mucopolysaccharide. [from HPO]

MedGen UID:
869170
Concept ID:
C4023592
Finding
8.

Abnormality of mucopolysaccharide metabolism

An abnormality of the metabolism of mucopolysaccharide. [from HPO]

MedGen UID:
451291
Concept ID:
CN116752
Finding
9.

Abnormality of polysaccharide metabolism

An abnormality of the metabolism of polysaccharide. [from HPO]

MedGen UID:
451283
Concept ID:
CN116744
Finding
10.

Abnormality of isoleucine metabolism

An abnormality of a isoleucine metabolic process. [from HPO]

MedGen UID:
451204
Concept ID:
CN116645
Finding
11.

Abnormality of glycosaminoglycan metabolism

Abnormality of glycosaminoglycan metabolism. [from HPO]

MedGen UID:
428459
Concept ID:
CN003870
Finding
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