C	C12326	Undescended Testes	Cryptorchidism	Undescended Testes|Undescended Testicle|Undescended Testis	The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.	The persistent failure of one or both testes to descend into the scrotum.	C103185	Congenital Reproductive System Abnormality	C27019	Male Reproductive System Disorder	C89506	Newborn Screening Terminology		
C	C34383	Sickle Cell Disease	Sickle Cell Disease	Sickle Cell Anemia|Sickling Disorder due to Hemoglobin S	A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.	An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion.	C3092	Hemoglobinopathy			C89506	Newborn Screening Terminology		
C	C26734	Congenital Hypothyroidism	Congenital Hypothyroidism		A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality.	Hypothyroidism, the cause of which is present at birth.	C34816	Congenital Metabolic Disorder			C89506	Newborn Screening Terminology		
C	C26785	Goiter	Goiter		Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.	Enlargement of the thyroid gland.	C3009	Endocrine System Disorder	C26836	Nutritional Disorder	C89506	Newborn Screening Terminology		
C	C34675	Hemoglobin C Disease	Hemoglobin C Disease		An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice.	An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic.	C3092	Hemoglobinopathy			C89506	Newborn Screening Terminology		
C	C81288	S-Beta Thalassemia	S-Beta Thalassemia		A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene.	A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with a hemoglobin S allele.	C35069	Thalassemia			C89506	Newborn Screening Terminology