| tyrosinemie type 2 (aandoening) | | tyrosinemie type 2 | | 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. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E70.2 | | Term | Stoornissen van tyrosinemetabolisme |
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| SNOMED CT to Orphanet simple map | 28378 |
| SNOMED CT to ICD-10 extended map | | Target | E70.2 | | Rule | TRUE | | Advice | ALWAYS E70.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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