4887000: Hypertyrosinemia, Richner-Hanhart type (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Hereditary hypertyrosinaemia\Hypertyrosinaemia, Richner-Hanhart type
• \Hereditary metabolic disease\Inborn error of metabolism\Hypertyrosinaemia, Richner-Hanhart type
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypertyrosinaemia, Richner-Hanhart type
• \Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinaemia\Hypertyrosinaemia, Richner-Hanhart type
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hypertyrosinaemia, Richner-Hanhart type
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinaemia\Hypertyrosinaemia, Richner-Hanhart type
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Hypertyrosinaemia\Hereditary hypertyrosinaemia\Hypertyrosinaemia, Richner-Hanhart type
• \Metabolic disease\Enzymopathy\Hypertyrosinaemia, Richner-Hanhart type
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinaemia\Hypertyrosinaemia, Richner-Hanhart type
• \Congenital disease\Inborn error of metabolism\Hypertyrosinaemia, Richner-Hanhart type

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3035469016	Tyrosinaemia type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3035539013	Tyrosinemia type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3994006015	Tyrosinaemia due to tyrosine aminotransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3994007012	Tyrosinemia due to tyrosine aminotransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
495230016	Hereditary hypertyrosinaemia, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
495231017	Hypertyrosinaemia, Oregon type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
495232012	Tyrosinemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
495233019	Oculocutaneous tyrosinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
495234013	Tyrosinaemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
495235014	Hypertyrosinaemia, Richner-Hanhart type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
495236010	Persistent hypertyrosinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
495237018	Tyrosinaemia without hepatorenal dysfunction	en	Synonym	Active	Case insensitive	SNOMED CT core
786485019	Hypertyrosinemia, Richner-Hanhart type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
9136018	Hypertyrosinemia, Richner-Hanhart type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
9137010	Tyrosine transaminase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
9138017	Oculocutaneous tyrosinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
9139013	Richner-Hanhart syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
9141014	Hereditary hypertyrosinemia, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
9142019	Hypertyrosinemia, Oregon type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
9143012	Keratosis palmoplantaris with corneal dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
9144018	Persistent hypertyrosinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
9145017	Richner syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
9146016	Tyrosinemia without hepatorenal dysfunction	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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