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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003536
http://purl.bioontology.org/ontology/NDFRT/N0000003536
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|---|---|
| Preferred Name | Porphyria, Acute Intermittent [Disease/Finding] |
| Synonyms |
Acute Porphyria
Porphyria, Acute Intermittent
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Acute Porphyria
Porphyria, Acute Intermittent
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|---|---|
| prefLabel | Porphyria, Acute Intermittent [Disease/Finding]
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| MESH DEFINITION | An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
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| MESH DUI | D017118
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| May be prevented by | |
| MESH UI | M0026010
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| MeSH name | Porphyria, Acute Intermittent
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| type | |
| tui | T047
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| SNOMED CID | 234422006
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| May be treated by |
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| notation | N0000003536
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| Semantic type UMLS property | |
| NUI | N0000003536
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| cui | C0162565
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| NDFRT kind | DISEASE_KIND
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| Has contraindicated drug |
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |