4887000: Hypertyrosinemia, Richner-Hanhart type (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Hereditary hypertyrosinemia\Hypertyrosinemia, Richner-Hanhart type
\Hereditary metabolic disease\Inborn error of metabolism\Hypertyrosinemia, Richner-Hanhart type

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypertyrosinemia, Richner-Hanhart type

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia\Hypertyrosinemia, Richner-Hanhart type
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hypertyrosinemia, Richner-Hanhart type
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\Hypertyrosinemia, Richner-Hanhart type
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Hypertyrosinemia\Hereditary hypertyrosinemia\Hypertyrosinemia, Richner-Hanhart type
\Metabolic disease\Enzymopathy\Hypertyrosinemia, Richner-Hanhart type
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\Hypertyrosinemia, Richner-Hanhart type

\Congenital disease\Inborn error of metabolism\Hypertyrosinemia, Richner-Hanhart type

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypertyrosinemia, Richner-Hanhart type	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type	Is a	Hypertyrosinemia	false	Inferred relationship	Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Hypertyrosinemia, Richner-Hanhart type	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type	Associated morphology	Hyperkeratosis	false	Inferred relationship	Existential restriction modifier	1
Hypertyrosinemia, Richner-Hanhart type	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type	Is a	Hereditary hypertyrosinemia	true	Inferred relationship	Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type	Is a	Keratosis	false	Inferred relationship	Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type	Due to	Deficiency of tyrosine aminotransferase	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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