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Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...
Miscellaneous multisystem diseases. Cystic fibrosis (CF) > 1 in 5,000; Congenital hypothyroidism (CH) > 1 in 5,000; Biotinidase deficiency (BIOT) > 1 in 75,000; Congenital adrenal hyperplasia (CAH) > 1 in 25,000; Classical galactosemia (GALT) > 1 in 50,000; Newborn screening by other methods than blood testing. Congenital deafness (HEAR) > 1 in ...
Chagas disease; Chickenpox; Copenhagen disease; Croup; Cystic fibrosis; Cytomegalovirus (the virus most frequently transmitted before birth) Dental caries; Type 1 diabetes; Diphtheria; Duchenne muscular dystrophy; Fifth disease; Congenital Heart Disease; Infectious mononucleosis; Influenza; Intussusception (medical disorder) Juvenile idiopathic ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Physical congenital abnormalities are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths. Seven to ten percent of all children [clarification needed] will require extensive medical care to diagnose or treat a birth defect. [113]
Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. The main article for this category is Congenital disorder .
Chronic kidney disease: CLOVES syndrome Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities syndrome CML Chronic myelogenous leukemia: CMs Chiari malformations: CMT disease Charcot–Marie–Tooth disease: CMT1A Charcot–Marie–Tooth disease type 1A CMT1B Charcot–Marie–Tooth disease ...
Congenital h – Congenital l. Congenital heart block; Congenital heart disease ptosis hypodontia craniostosis; Congenital heart disease radio ulnar synostosis mental retardation; Congenital heart disorder; Congenital heart septum defect; Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects; Congenital hemolytic anemia