| Descriptor English: | Porphyrias | ||||
| Descriptor Spanish: |
Porfirias
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| Descriptor Portuguese: | Porfirias | ||||
| Descriptor French: | Porphyries | ||||
| Entry term(s): |
Disorder, Porphyrin Disorders, Porphyrin Porphyria Porphyrin Disorder Porphyrin Disorders |
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| Tree number(s): |
C18.452.811 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D011164 | ||||
| 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. |
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| Annotation: | general or unspecified: prefer specifics |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2005; see PORPHYRIA 1963-2004 |
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| History Note: | 2005 (1963) |
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| Related: |
Hydroxymethylbilane Synthase
MeSH Porphobilinogen Synthase MeSH | ||||
| DeCS ID: | 11606 | ||||
| Unique ID: | D011164 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2005/01/01 | ||||
| Date of Entry: | 1999/01/01 | ||||
| Revision Date: | 2015/06/02 |
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Porphyrias
- Preferred
| 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. |
| Preferred term | Porphyrias |
| Entry term(s) |
Disorder, Porphyrin Disorders, Porphyrin Porphyria Porphyrin Disorder Porphyrin Disorders |
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