Autosomal recessive hereditary disorder	Enzymopathy	Hereditary hypertyrosinemia	Inborn error of metabolism
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Hypertyrosinemia, Richner-Hanhart type (disorder)
	Tyrosinemia type 2
	Tyrosinemia type II Hypertyrosinemia, Oregon type Richner syndrome Hypertyrosinemia, Richner-Hanhart type Keratosis palmoplantaris with corneal dystrophy Tyrosinemia due to tyrosine aminotransferase deficiency Persistent hypertyrosinemia Oculocutaneous tyrosinemia Richner-Hanhart syndrome Tyrosine transaminase deficiency Tyrosinemia without hepatorenal dysfunction Hereditary hypertyrosinemia, type II
	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.
	tyrosinemie type 2

Id	4887000
Status	Primitive

Occurrence

Due to

Deficiency of tyrosine aminotransferase

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E70.2
Rule	TRUE
Advice	ALWAYS E70.2
Correlation	SNOMED CT source code to target map code correlation not specified