4887000: Hypertyrosinemia, Richner-Hanhart type (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Hereditary hypertyrosinemia\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
\Hereditary metabolic disease\Inborn error of metabolism\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Hypertyrosinemia\Hereditary hypertyrosinemia\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
\Metabolic disease\Enzymopathy\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Is a	Enzymopathy	true	Inferred relationship	Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Is a	Hypertyrosinemia	false	Inferred relationship	Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Occurrence	Congenital	true	Inferred relationship	Some	2
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Finding site	Body system structure	false	Inferred relationship	Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	1
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Is a	Inborn error of metabolism	true	Inferred relationship	Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Is a	Hereditary hypertyrosinemia	true	Inferred relationship	Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Is a	Keratosis	false	Inferred relationship	Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Due to	Deficiency of tyrosine aminotransferase	true	Inferred relationship	Some	1

Inbound Relationships

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Active

Source

Characteristic

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Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5454083012	A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5454084018	A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
6259591000241112	hypertyrosinémie de type Richner-Hanhar	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6259601000241117	syndrome de kératose palmoplantaire et dystrophie cornéenne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6259611000241115	tyrosinémie oculocutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435321001000115	Tyrosinämie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module