84193000: Trehalase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Trehalase deficiency

\Autosomal hereditary disorder\Trehalase deficiency

\trouble métabolique\Inborn error of metabolism\Trehalase deficiency
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Trehalase deficiency
\trouble métabolique\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Trehalase deficiency
\trouble métabolique\Disorder of carbohydrate metabolism\Disorder of carbohydrate transport (disorder)\Trehalase deficiency

\Congenital disease\Inborn error of metabolism\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

1234911010 Alpha, alpha-trehalase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
139626015 alpha, alpha-Trehalase deficiency en Synonym (core metadata concept) Inactive 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 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
825985012 alpha, alpha-Trehalase deficiency (disorder) en Fully specified name Inactive Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trehalase deficiency	est un(e) (attribut)	Autosomal hereditary disorder	true	Inferred relationship	Some
Trehalase deficiency	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Trehalase deficiency	est un(e) (attribut)	Disorder of carbohydrate transport (disorder)	true	Inferred relationship	Some
Trehalase deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Trehalase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Trehalase deficiency	est un(e) (attribut)	Disorder of carbohydrate absorption	true	Inferred relationship	Some
Trehalase deficiency	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Trehalase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Trehalase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets