271847005: Hereditary hypertyrosinemia (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hypertyrosinemia (disorder)

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Hypertyrosinaemia\Hereditary hypertyrosinemia (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypertyrosinemia (disorder)	Is a	Hypertyrosinaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary hypertyrosinemia (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary hypertyrosinemia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary hypertyrosinemia (disorder)	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary hypertyrosinemia (disorder)	Is a	Hereditary metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fumarylacetoacetase deficiency	Is a	False	Hereditary hypertyrosinemia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Tyrosinaemia type I	Is a	True	Hereditary hypertyrosinemia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Fumarylacetoacetase deficiency, chronic type	Is a	True	Hereditary hypertyrosinemia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Hereditary hypertyrosinemia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
406832013	Tyrosinaemia-tyrosiluria hereditary syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406833015	Hereditary hypertyrosinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406834014	Hereditary hypertyrosinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406835010	Tyrosinemia-tyrosiluria hereditary syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
664301017	Hereditary hypertyrosinemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4554512018	Hereditary tyrosinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4554513011	Hereditary tyrosinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406832013	Tyrosinaemia-tyrosiluria hereditary syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
406832013	Tyrosinaemia-tyrosiluria hereditary syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406833015	Hereditary hypertyrosinemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
406833015	Hereditary hypertyrosinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406834014	Hereditary hypertyrosinaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
406834014	Hereditary hypertyrosinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406835010	Tyrosinemia-tyrosiluria hereditary syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
406835010	Tyrosinemia-tyrosiluria hereditary syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
664301017	Hereditary hypertyrosinemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
664301017	Hereditary hypertyrosinemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4554512018	Hereditary tyrosinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4554513011	Hereditary tyrosinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5113661000241112	hypertyrosinémie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5113661000241112	hypertyrosinémie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module