Netherton Syndrome

MeSH code information

• Name
  Netherton Syndrome
• Concept
  Scope note: Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.
• Tree numbers
  • C16.131.077.619
  • C16.131.831.512.400.705
  • C16.320.850.673
  • C16.614.492.400.705
  • C17.800.428.333.250.705
  • C17.800.804.512.400.705
  • C17.800.827.655
• Qualifiers
  diagnosis, parasitology, immunology, microbiology, diagnostic imaging, physiopathology, rehabilitation, enzymology, etiology, mortality, epidemiology, blood, cerebrospinal fluid, chemically induced, diet therapy, drug therapy, therapy, psychology, urine, virology, veterinary, history, classification, economics, embryology, genetics, nursing, radiotherapy, ethnology, prevention & control, pathology, metabolism, complications, surgery