712641002: Deficiency of glucosyltransferase 1 (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of glucosyltransferase 1

\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glucosyltransferase 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3083319011 Deficiency of glucosyltransferase 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3083479017 Deficiency of glucosyltransferase 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3083319011 Deficiency of glucosyltransferase 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3083319011 Deficiency of glucosyltransferase 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3083479017 Deficiency of glucosyltransferase 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3083479017 Deficiency of glucosyltransferase 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5855231000241117 déficit en glucosyltransférase 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5855231000241117 déficit en glucosyltransférase 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of glucosyltransferase 1	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glucosyltransferase 1	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital disorder of glycosylation type 1c (disorder)	Due to	True	Deficiency of glucosyltransferase 1	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets