SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/4887000
http://purl.bioontology.org/ontology/SNOMEDCT/4887000
Preferred Name

Tyrosinemia type 2

Definitions
An inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and in some cases intellectual deficit. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. Onset is variable but the ocular symptoms (redness, photophobia, excessive tearing and pain) usually develop in the first year of life. Cutaneous manifestations usually begin after the first year of life but may develop at the same time as the ocular symptoms. Caused by mutations in the TAT gene (16q22.1) encoding tyrosine aminotransferase (TAT). The elevated levels of tyrosine caused by TAT deficiency appear to result in deposition of tyrosine crystals leading to an inflammatory response and the oculocutaneous findings. Transmitted as an autosomal recessive trait. An inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and in some cases intellectual deficit. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. Onset is variable but the ocular symptoms (redness, photophobia, excessive tearing and pain) usually develop in the first year of life. Cutaneous manifestations usually begin after the first year of life but may develop at the same time as the ocular symptoms. Caused by mutations in the TAT gene (16q22.1) encoding tyrosine aminotransferase (TAT). The elevated levels of tyrosine caused by TAT deficiency appear to result in deposition of tyrosine crystals leading to an inflammatory response and the oculocutaneous findings. Transmitted as an autosomal recessive trait.
Synonyms
Oculocutaneous tyrosinemia
Tyrosinemia type II
Tyrosinemia due to tyrosine aminotransferase deficiency
Persistent hypertyrosinemia
Keratosis palmoplantaris with corneal dystrophy
TAT-gene related hypertyrosinaemia Richner Hanhart type
Tyrosinaemia due to tyrosine aminotransferase deficiency
Tyrosinaemia without hepatorenal dysfunction
Richner-Hanhart syndrome
Hereditary hypertyrosinaemia, type II
Persistent hypertyrosinaemia
Tyrosinaemia type II
Hypertyrosinaemia, Oregon type
Hypertyrosinemia, Richner-Hanhart type (disorder)
Hereditary hypertyrosinemia, type II
Tyrosinemia without hepatorenal dysfunction
Hypertyrosinaemia, Richner-Hanhart type
Oculocutaneous tyrosinaemia
Hypertyrosinemia, Oregon type
Richner syndrome
Hypertyrosinemia, Richner-Hanhart type
Tyrosinaemia type 2
TAT-gene related hypertyrosinemia Richner Hanhart type
Tyrosine transaminase deficiency
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