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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000004017
http://purl.bioontology.org/ontology/NDFRT/N0000004017
|
|---|---|
| Preferred Name | Tyrosinemias [Disease/Finding] |
| Synonyms |
Hypertyrosinemia
Tyrosinemias, Hereditary
Hereditary Tyrosinemias
Tyrosinemias
Tyrosinemia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Hypertyrosinemia
Tyrosinemias, Hereditary
Hereditary Tyrosinemias
Tyrosinemias
Tyrosinemia
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|---|---|
| prefLabel | Tyrosinemias [Disease/Finding]
|
| MESH DEFINITION | A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
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| MESH DUI | D020176
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| MESH UI | M0328654
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| MeSH name | Tyrosinemias
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| type | |
| tui | T047
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| SNOMED CID |
190694001
56595005
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| May be treated by |
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| notation | N0000004017
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| Semantic type UMLS property | |
| NUI | N0000004017
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| cui | C0268483
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |