56595005: Hypertyrosinemia (disorder)

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

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\...

\Aminoacidemia\Hypertyrosinemia

\Disorder of tyrosine metabolism\Hypertyrosinemia

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia

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

Descriptions:

Id Description Lang Type Status Case? Module

94117019 Hypertyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

94119016 Elevated tyrosine blood level en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

497657013 Hypertyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

795124017 Hypertyrosinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2004441000005114 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
Hypertyrosinemia	Is a	Disorder of tyrosine metabolism	true	Inferred relationship	Some
Hypertyrosinemia	Is a	Aminoacidemia	true	Inferred relationship	Some
Hypertyrosinemia	Finding site	Body system structure	false	Inferred relationship	Some
Hypertyrosinemia	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary hypertyrosinemia	Is a	True	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	False	Hypertyrosinemia	Inferred relationship	Some
Transient neonatal hypertyrosinemia	Is a	True	Hypertyrosinemia	Inferred relationship	Some

This concept is not in any reference sets