National Drug File - Reference Terminology - Porphyria, Acute Intermittent [Disease/Finding] - Classes | NCBO BioPortal

National Drug File - Reference Terminology

Last uploaded: July 6, 2018

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Preferred Name	Porphyria, Acute Intermittent [Disease/Finding]
Synonyms	Acute Porphyria Porphyria, Acute Intermittent
ID	http://purl.bioontology.org/ontology/NDFRT/N0000003536
altLabel	Acute Porphyria Porphyria, Acute Intermittent
cui	C0162565
Has contraindicated drug	http://purl.bioontology.org/ontology/NDFRT/N0000146778 http://purl.bioontology.org/ontology/NDFRT/N0000163570 http://purl.bioontology.org/ontology/NDFRT/N0000158019 http://purl.bioontology.org/ontology/NDFRT/N0000158022 http://purl.bioontology.org/ontology/NDFRT/N0000148093 http://purl.bioontology.org/ontology/NDFRT/N0000158021 http://purl.bioontology.org/ontology/NDFRT/N0000177011 http://purl.bioontology.org/ontology/NDFRT/N0000152890 http://purl.bioontology.org/ontology/NDFRT/N0000158020 http://purl.bioontology.org/ontology/NDFRT/N0000162396
May be prevented by	http://purl.bioontology.org/ontology/NDFRT/N0000193586 http://purl.bioontology.org/ontology/NDFRT/N0000147014
May be treated by	http://purl.bioontology.org/ontology/NDFRT/N0000146213 http://purl.bioontology.org/ontology/NDFRT/N0000150671 http://purl.bioontology.org/ontology/NDFRT/N0000150670 http://purl.bioontology.org/ontology/NDFRT/N0000150683 http://purl.bioontology.org/ontology/NDFRT/N0000150668 http://purl.bioontology.org/ontology/NDFRT/N0000150669 http://purl.bioontology.org/ontology/NDFRT/N0000164094 http://purl.bioontology.org/ontology/NDFRT/N0000146214 http://purl.bioontology.org/ontology/NDFRT/N0000193586 http://purl.bioontology.org/ontology/NDFRT/N0000147014 http://purl.bioontology.org/ontology/NDFRT/N0000150674
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
MESH UI	M0026010
NDFRT kind	DISEASE_KIND
notation	N0000003536
NUI	N0000003536
prefLabel	Porphyria, Acute Intermittent [Disease/Finding]
SNOMED CID	234422006
tui	T047
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000003528

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D017118	MESH	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D017118	MSHFRE	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10000818	MDRFRE	CUI
	http://purl.bioontology.org/ontology/MDRGER/10000818	MDRGER	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10000818	MEDDRA	CUI
	http://purl.bioontology.org/ontology/RCD/C3712	RCD	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/234422006	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/CSP/1849-7674	CRISP	CUI
	http://purl.bioontology.org/ontology/CSP/0944-4849	CRISP	CUI
	http://purl.bioontology.org/ontology/SNMI/D6-88310	SNMI	CUI
	http://purl.bioontology.org/ontology/MDRGER/10036182	MDRGER	CUI
	http://purl.bioontology.org/ontology/OMIM/176000	OMIM	CUI
	http://purl.bioontology.org/ontology/OMIM/609806	OMIM	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10036182	MEDDRA	CUI
	http://purl.bioontology.org/ontology/SCTSPA/234422006	SCTSPA	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10036182	MDRFRE	CUI
	http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003536	INBANCIDO	LOOM
	http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003536	CIDO	LOOM