Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 9136018 | Hypertyrosinemia, Richner-Hanhart type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 9137010 | Tyrosine transaminase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 9138017 | Oculocutaneous tyrosinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 9139013 | Richner-Hanhart syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 9141014 | Hereditary hypertyrosinemia, type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 9142019 | Hypertyrosinemia, Oregon type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 9143012 | Keratosis palmoplantaris with corneal dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 9144018 | Persistent hypertyrosinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 9145017 | Richner syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 9146016 | Tyrosinemia without hepatorenal dysfunction | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 495230016 | Hereditary hypertyrosinaemia, type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 495231017 | Hypertyrosinaemia, Oregon type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 495232012 | Tyrosinemia type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 495233019 | Oculocutaneous tyrosinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 495234013 | Tyrosinaemia type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 495235014 | Hypertyrosinaemia, Richner-Hanhart type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 495236010 | Persistent hypertyrosinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 495237018 | Tyrosinaemia without hepatorenal dysfunction | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 786485019 | Hypertyrosinemia, Richner-Hanhart type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3035469016 | Tyrosinaemia type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3035539013 | Tyrosinemia type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3994006015 | Tyrosinaemia due to tyrosine aminotransferase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3994007012 | Tyrosinemia due to tyrosine aminotransferase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5314980011 | TAT-gene related hypertyrosinemia Richner Hanhart type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5314981010 | TAT-gene related hypertyrosinaemia Richner Hanhart type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 337791000146119 | tyrosinemie type 2 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 337801000146115 | tyrosinemie type 2 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3994008019 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3994009010 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Is a | Enzymopathy | true | Inferred relationship | Some | ||
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Is a | Hypertyrosinemia | false | Inferred relationship | Some | ||
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 1 | |
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Is a | Hereditary hypertyrosinemia | true | Inferred relationship | Some | ||
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Is a | Keratosis | false | Inferred relationship | Some | ||
| Hypertyrosinemia, Richner-Hanhart type (disorder) | Due to | Deficiency of tyrosine aminotransferase | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR