MeSH Browser

MeSH Heading: Porphyrias
Tree Number(s): C18.452.811
Unique ID: D011164
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D011164
Annotation: general or unspecified: prefer specifics
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.
Entry Term(s): Porphyria; Porphyrin Disorder
NLM Classification #: QU 260.5.P6
See Also: Hydroxymethylbilane Synthase; Porphobilinogen Synthase
Public MeSH Note: 2005; see PORPHYRIA 1963-2004
History Note: 2005 (1963)
Date Established: 2005/01/01
Date of Entry: 1999/01/01
Revision Date: 2015/06/02

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

congenital (CN)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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)

Porphyrias MeSH Descriptor Data 2025