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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003528
http://purl.bioontology.org/ontology/NDFRT/N0000003528
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|---|---|
| Preferred Name | Porphyrias, Hepatic [Disease/Finding] |
| Synonyms |
Porphyria, Hepatic
Hepatic Porphyria
Porphyrias, Hepatic
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Porphyria, Hepatic
Hepatic Porphyria
Porphyrias, Hepatic
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|---|---|
| prefLabel | Porphyrias, Hepatic [Disease/Finding]
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| MESH DEFINITION | A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
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| MESH DUI | D017094
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| MESH UI | M0025973
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| MeSH name | Porphyrias, Hepatic
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| type | |
| tui | T047
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| SNOMED CID | 55056006
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| notation | N0000003528
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| Semantic type UMLS property | |
| NUI | N0000003528
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| cui | C0162533
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
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| No notes to display |