Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Concept
Code System Concept Code | 4887000 |
Code System Concept Name | Hypertyrosinemia, Richner-Hanhart type (disorder) |
Code System Preferred Concept Name | Hypertyrosinemia, Richner-Hanhart type (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 01/31/2002 |
SDO Date Created | 01/31/2002 |
SDO Date Revised | 01/31/2002 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3035469016 | Tyrosinaemia type 2 | Active | Synonym | false | false |
3035539013 | Tyrosinemia type 2 | Active | Synonym | false | false |
3994006015 | Tyrosinaemia due to tyrosine aminotransferase deficiency | Active | Synonym | false | false |
3994007012 | Tyrosinemia due to tyrosine aminotransferase deficiency | Active | Synonym | false | false |
495230016 | Hereditary hypertyrosinaemia, type II | Active | Synonym | false | false |
495231017 | Hypertyrosinaemia, Oregon type | Active | Synonym | false | false |
495232012 | Tyrosinemia type II | Active | Synonym | false | false |
495233019 | Oculocutaneous tyrosinaemia | Active | Synonym | false | false |
495234013 | Tyrosinaemia type II | Active | Synonym | false | false |
495235014 | Hypertyrosinaemia, Richner-Hanhart type | Active | Synonym | false | false |
495236010 | Persistent hypertyrosinaemia | Active | Synonym | false | false |
495237018 | Tyrosinaemia without hepatorenal dysfunction | Active | Synonym | false | false |
495238011 | Tyrosinaemia, type II | Active | Synonym | false | false |
9136018 | Hypertyrosinemia, Richner-Hanhart type | Active | Synonym | false | false |
9137010 | Tyrosine transaminase deficiency | Active | Synonym | false | false |
9138017 | Oculocutaneous tyrosinemia | Active | Synonym | false | false |
9139013 | Richner-Hanhart syndrome | Active | Synonym | false | false |
9140010 | Tyrosinemia, type II | Active | Synonym | false | false |
9141014 | Hereditary hypertyrosinemia, type II | Active | Synonym | false | false |
9142019 | Hypertyrosinemia, Oregon type | Active | Synonym | false | false |
9143012 | Keratosis palmoplantaris with corneal dystrophy | Active | Synonym | false | false |
9144018 | Persistent hypertyrosinemia | Active | Synonym | false | false |
9145017 | Richner syndrome | Active | Synonym | false | false |
9146016 | Tyrosinemia without hepatorenal dysfunction | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: