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60952007: Urocanate hydratase deficiency (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
101277019 Urocanate hydratase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
101278012 Urocanic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
101279016 Urocanase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
799961018 Urocanate hydratase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Urocanate hydratase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Urocanate hydratase deficiency Is a Disorder of histidine metabolism true Inferred relationship Some
Urocanate hydratase deficiency Is a Enzymopathy true Inferred relationship Some
Urocanate hydratase deficiency Occurrence Congenital true Inferred relationship Some 1
Urocanate hydratase deficiency Finding site Body system structure false Inferred relationship Some
Urocanate hydratase deficiency Is a Inborn error of metabolism true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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