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56595005: Hypertyrosinemia (disorder)

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
94117019 Hypertyrosinemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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
4575451000241118 hypertyrosinémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4575451000241118 hypertyrosinémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertyrosinaemia Is a Disorder of tyrosine metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertyrosinaemia Is a Aminoacidaemia true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertyrosinaemia Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hypertyrosinaemia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary hypertyrosinemia (disorder) Is a True Hypertyrosinaemia 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 False Hypertyrosinaemia Inferred relationship Existential restriction modifier (core metadata concept)
Transient neonatal hypertyrosinemia Is a True Hypertyrosinaemia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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