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Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
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]
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.
The full chapter can be found on pages 417 to 437 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1. Both volumes can be downloaded for free from the website of the World Health Organization.
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 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 works. [3] Functional disorders include metabolic and degenerative disorders. [3] Some birth defects include both structural and functional disorders. [3]
Amelia (birth defect) Amelia cleft lip palate hydrocephalus iris coloboma; Amelia facial dysmorphism; Amelia X linked; Amelogenesis; Amelogenesis imperfecta. Amelogenesis imperfecta hypomaturation type; Amelogenesis imperfecta local hypoplastic form; Amelogenesis imperfecta nephrocalcinosis; Ameloonychohypohidrotic syndrome; Amenorrhea ...
Upload file; Search. Search. Appearance. Donate; ... Download as PDF; Printable version; ... This is an alphabetically sorted list of medical syndromes. 1p36 deletion ...