124268002: deficiëntie van 1,4-alfaglucaan-6-alfaglucosyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase

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

203896016 Deficiency of oligoglucanbranching glycosyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203897013 Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727836016 Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8277791000146116 deficiëntie van 1,4-alfaglucaan-6-alfaglucosyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277811000146115 1,4-alfaglucaan-6-alfaglucosyltransferasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277821000146113 tekort aan 1,4-alfaglucaan-6-alfaglucosyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8674371000146110 deficiëntie van 1,4-alfaglucaan-6-alfaglucosyltransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set