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Begreppsinformation

Digestive System Diseases > Liver Diseases > Porphyrias, Hepatic
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Porphyrias, Hepatic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Porphyrias, Hepatic
Nutritional and Metabolic Diseases > Metabolic Diseases > Porphyrias > Porphyrias, Hepatic

Föredragen term

Porphyrias, Hepatic  

Typ

  • Topical Descriptor

Överordnat begrepp

Underordnade begrepp

Hänvisningstermer

  • Hepatic Porphyria
  • Porphyria, Hepatic

Anmärkning

  • do not confuse with PORPHYRIA, ERYTHROHEPATIC

Användningsanmärkning

  • A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.

Anmärkning om ändringshistoria

  • 2005 (1993)

Termer på andra språk

URI

http://www.yso.fi/onto/mesh/D017094

Ladda ned detta begrepp:

RDF/XML TURTLE JSON-LD Skapad 1992-05-22, senast editerad 2022-04-11