84193000: Trehalase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Trehalase deficiency

\Autosomal hereditary disorder\Trehalase deficiency

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Trehalase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Trehalase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Trehalase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate transport\Trehalase 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

139627012 Trehalose intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

201127011 Trehalase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1234911010 Alpha, alpha-trehalase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4636710019 Trehalase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

139626015 alpha, alpha-Trehalase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

139627012 Trehalose intolerance en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

139627012 Trehalose intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

201127011 Trehalase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

201127011 Trehalase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

825985012 alpha, alpha-Trehalase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

825985012 alpha, alpha-Trehalase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1234911010 Alpha, alpha-trehalase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1234911010 Alpha, alpha-trehalase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4636710019 Trehalase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3451691001000114 Trehalase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4665071000241118 déficit en alpha-tréhalase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4665071000241118 déficit en alpha-tréhalase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3451691001000114 Trehalase-Mangel 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
Trehalase deficiency	Is a	Disorder of carbohydrate transport	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trehalase deficiency	Is a	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Trehalase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Trehalase deficiency	Is a	Disorder of carbohydrate absorption	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trehalase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trehalase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Trehalase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trehalase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trehalase deficiency	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

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This concept is not in any reference sets