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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002464
http://purl.bioontology.org/ontology/NDFRT/N0000002464
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|---|---|
| Preferred Name | Porphyrias [Disease/Finding] |
| Synonyms |
Porphyria
Porphyrias
Porphyrin Disorder
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Porphyria
Porphyrias
Porphyrin Disorder
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|---|---|
| prefLabel | Porphyrias [Disease/Finding]
|
| notation | N0000002464
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| Inverse of induces | |
| Has contraindicated drug |
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| MESH 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.
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| MESH UI | M0017334
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name | Porphyrias
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| NDFRT kind | DISEASE_KIND
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| type | |
| SNOMED CID |
418470004
371628009
29094004
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| tui | T047
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| NUI | N0000002464
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| cui | C0032708
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| MESH DUI | D011164
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| Delete | Subject | Author | Type | Created |
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| No notes to display |