124472001: Deficiency of amylo-1,6-glucosidase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of amylo-1,6-glucosidase (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

204448015 Deficiency of dextrin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204449011 Deficiency of 6-alpha-D-glucosidase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204450011 Deficiency of amylo-1,6-glucosidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728167018 Deficiency of amylo-1,6-glucosidase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

10630441000172114 déficit en dextrine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10630451000172111 déficit en amylo-1,6-glucosidase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4210701000172112 deficiëntie van amylo-alfa-1,6-glucosidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4210711000172110 amylo-1,6-glucosidasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4210721000172117 deficiëntie van amylo-1,6-glucosidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of amylo-1,6-glucosidase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of amylo-1,6-glucosidase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets