- Concept UI
- M0017334
- Scope Note
- A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
- Terms
-
Porphyrias
Preferred Term
Term UI
T551501
Date09/24/2003
LexicalTag
NON
ThesaurusID
NLM (2005)
-
Porphyria
Term UI
T032890
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
Porphyrin Disorder
Term UI
T842304
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)