Search results
Results From The WOW.Com Content Network
Download as PDF; Printable version; In other projects ... (Congenital heart defects) Hemifacial microsomia; ... List of ICD-9 codes 740–759: congenital anomalies ...
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. There are over 6,000 known genetic disorders in humans.
Defects of biopterin cofactor biosynthesis [1] Defects of biopterin cofactor regeneration [1] Tyrosinemia III [1] Hypermethioninemia [1] Citrullinemia type II [1] Inborn errors of organic acid metabolism. Methylmalonic acidemia (Cbl C,D) [1] Malonic acidemia [1] 2-Methyl 3-hydroxy butyric aciduria [1] Isobutyryl-CoA dehydrogenase deficiency [1]
Print/export Download as PDF; Printable version; In other projects ... This is an alphabetically sorted list of medical syndromes 1p36 deletion syndrome; 1q21.1 ...
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. 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.
Birth defects may result in disabilities that may be physical, intellectual, or developmental. [2] The disabilities can range from mild to severe. [6] Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part ...
Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
Other complications can include premature birth, infection, problems with body temperature, and dehydration. [ 4 ] [ 5 ] The condition is the most severe form of ichthyosis (except for syndromes that include ichthyosis, for example, Neu–Laxova syndrome ), a group of genetic disorders characterised by scaly skin.