OMOP Concept 4172136
Tyrosinemia type 2
StandardConditionSNOMED4887000Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Tyrosinemia type 2 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 138112 | Hypertyrosinemia, Richner-Hanhart Type | Non-standard |
| Nebraska Lexicon | 4887000 | Keratosis palmoplantaris with corneal dystrophy | Non-standard |
Synonyms
Alternative names recorded for Tyrosinemia type 2 across source vocabularies.
- deficiencia de tirosina transaminasa
- Hereditary hypertyrosinaemia, type II
- Hereditary hypertyrosinemia, type II
- hipertirosinemia de Richner Hanhart asociada al gen TAT
- hipertirosinemia hereditaria, tipo II
- hipertirosinemia persistente
- hipertirosinemia tipo Oregon
- hipertirosinemia, tipo Richner - Hanhart
- hipertirosinemia, tipo Richner - Hanhart (trastorno)
- Hypertyrosinaemia, Oregon type
- Hypertyrosinaemia, Richner-Hanhart type
- Hypertyrosinemia, Oregon type
- Hypertyrosinemia, Richner-Hanhart type
- Hypertyrosinemia, Richner-Hanhart type (disorder)
- Keratosis palmoplantaris with corneal dystrophy
- Oculocutaneous tyrosinaemia
- Oculocutaneous tyrosinemia
- Persistent hypertyrosinaemia
- Persistent hypertyrosinemia
- queratosis palmoplantar con distrofia corneal
- Richner-Hanhart syndrome
- Richner syndrome
- síndrome de Richner
- síndrome de Richner-Hanhart
- TAT-gene related hypertyrosinaemia Richner Hanhart type
- TAT-gene related hypertyrosinemia Richner Hanhart type
- tirosinemia debida a deficiencia de aminotransferasa de tirosina
- tirosinemia debida a deficiencia de tirosina aminotransferasa
- tirosinemia oculocutánea
- tirosinemia sin disfunción hepatorrenal
- tirosinemia tipo 2
- Tyrosinaemia due to tyrosine aminotransferase deficiency
- Tyrosinaemia type 2
- Tyrosinaemia type II
- Tyrosinaemia without hepatorenal dysfunction
- Tyrosinemia due to tyrosine aminotransferase deficiency
- Tyrosinemia type II
- Tyrosinemia without hepatorenal dysfunction
- Tyrosine transaminase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(21)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Enzymopathy
- 1Hereditary hypertyrosinemia
- 1Inborn error of metabolism
- 2Autosomal hereditary disorder
- 2Congenital disease
- 2Hereditary metabolic disease
- 2Hypertyrosinemia
- 2Metabolic disease
- 3Aminoacidemia
- 3Disease
- 3Disorder of fetus and/or newborn
- 3Disorder of tyrosine metabolism
- 3Hereditary disease
- 4Acidemia
- 4Clinical finding
- 4Disorder of amino acid and organic acid metabolism
- 4Genetic disease
- 5Disorder of acid-base balance
- 5Disorder of amino acid metabolism
- 6Disorder of organic acid metabolism
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