Link to this page
Medical Subject Headings
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/MESH/D011164
http://purl.bioontology.org/ontology/MESH/D011164
|
|---|---|
| Preferred Name | Porphyrias |
| Definitions |
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.
|
| Synonyms |
Porphyria
Disorders, Porphyrin
Porphyrin Disorders
Disorder, Porphyrin
Porphyrin Disorder
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
Porphyria
Disorders, Porphyrin
Porphyrin Disorders
Disorder, Porphyrin
Porphyrin Disorder
|
| prefLabel |
Porphyrias
|
| TH |
NLM (2005)
NLM (1963)
GHR (2014)
|
| notation |
D011164
|
| DX |
20050101
|
| Machine permutation |
2005; see PORPHYRIA 1963-2004
|
| MN |
C18.452.811
|
| FX |
D000623
D011163
|
| MMR |
20150602
|
| Mapped from | |
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| HN |
2005 (1963)
|
| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
|
| MDA |
19990101
|
| Inverse of RO | |
| type | |
| tui |
T047
|
| cui |
C5848306
|
| AN |
general or unspecified: prefer specifics
|
| Inverse of AQ |
See more
See less
|
| TERMUI |
T032890
T842304
T551501
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |