124287008: Deficiency of tyrosine aminotransferase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of tyrosine aminotransferase

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

203979018 Deficiency of tyrosine aminotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727876014 Deficiency of tyrosine aminotransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

203979018 Deficiency of tyrosine aminotransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

203979018 Deficiency of tyrosine aminotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727876014 Deficiency of tyrosine aminotransferase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

727876014 Deficiency of tyrosine aminotransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4771621000241111 déficit en tyrosine-aminotransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4771621000241111 déficit en tyrosine-aminotransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of tyrosine aminotransferase	Is a	Deficiency of transferase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of tyrosine aminotransferase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Due to	True	Deficiency of tyrosine aminotransferase	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets