60952007: Urocanate hydratase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Urocanate hydratase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Urocanate hydratase deficiency

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Urocanate hydratase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Urocanate hydratase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of histidine metabolism\Urocanate hydratase deficiency
\Metabolic disease\Enzymopathy\Urocanate hydratase deficiency

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

101277019 Urocanate hydratase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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 Only initial character 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

3417871001000112 Urocanase-Azidurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4590071000241116 déficit en urocanate hydratase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4590071000241116 déficit en urocanate hydratase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3417871001000112 Urocanase-Azidurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets