271847005: Hereditary hypertyrosinemia (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hypertyrosinemia

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia
\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
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia

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

Descriptions:

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

3844221000005117 hereditær hypertyrosinæmi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypertyrosinemia	Is a	Hypertyrosinemia	true	Inferred relationship	Some
Hereditary hypertyrosinemia	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	Hereditary disease	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	Hereditary metabolic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fumarylacetoacetase deficiency	Is a	False	Hereditary hypertyrosinemia	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	True	Hereditary hypertyrosinemia	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Is a	True	Hereditary hypertyrosinemia	Inferred relationship	Some
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	Inferred relationship	Some

This concept is not in any reference sets