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Prader–Willi syndrome; Proteus syndrome; Prune belly syndrome; R. Radial aplasia; Rett syndrome; ... List of ICD-9 codes 740–759: congenital anomalies; Rare disease
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [2] In newborns, symptoms include weak muscles, poor feeding, and slow development. [2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. [2]
This is a shortened version of the fourteenth chapter of the ICD-9: Congenital Anomalies. It covers ICD codes 740 to 759 . The full chapter can be found on pages 417 to 437 of Volume 1, which contains all (sub)categories of the ICD-9.
The following is a list of genetic disorders and if known, ... Prader–Willi syndrome: 15q DCP Scheuermann's disease: 1q21-q22 or 7q22 Sickle cell disease: 11p P
There are known three molecular causes of Prader–Willi syndrome development. One of them consists in micro-deletions of the chromosome region 15q11–q13. 70% of patients present a 5–7-Mb de novo deletion in the proximal region of the paternal chromosome 15. The second frequent genetic abnormality (~ 25–30% of cases) is maternal ...
DiGeorge syndrome or velocardiofacial syndrome [3] – most common microdeletion syndrome; Prader–Willi syndrome [4] [5] Angelman syndrome [4] Neurofibromatosis type I [6] Neurofibromatosis type II [7] [8] Williams syndrome [9] Miller–Dieker syndrome [10] Smith–Magenis syndrome [11] Rubinstein–Taybi syndrome [12] Wolf–Hirschhorn ...
People normally have two copies of this chromosome in each cell, one copy from each parent. Prader–Willi syndrome occurs when the paternal copy is partly or entirely missing. In about 70% of cases, [citation needed] Prader–Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted. The genes in this region are ...
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.