Jump to:
loading...| Preferred Name | Porphyria, Acute Intermittent [Disease/Finding] | |
| Synonyms |
|
|
| ID |
http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003536 |
|
| code |
C7250 |
|
| Display_Name |
Porphyria, Acute Intermittent |
|
| imported from | ||
| label |
Porphyria, Acute Intermittent [Disease/Finding] |
|
| MeSH_CUI |
M0026010 |
|
| 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. |
|
| MeSH_DUI |
D017118 |
|
| MeSH_Name |
Porphyria, Acute Intermittent |
|
| NUI |
N0000003536 |
|
| prefixIRI |
NDF-RT:N0000003536 |
|
| prefLabel |
Porphyria, Acute Intermittent [Disease/Finding] |
|
| RxNorm_CUI |
1023116 |
|
| SNOMED_CID |
234422006 |
|
| Synonym |
Acute Porphyria |
|
| UMLS_CUI |
C0162565 |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003536 | INBANCIDO | SAME_URI | |
| http://purl.bioontology.org/ontology/NDFRT/N0000003536 | NDFRT | LOOM | |
| http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003536 | INBANCIDO | LOOM |