124454007: glucaan-1,4-alfaglucosidasedeficiëntie (aandoening)

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

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

204377015 Deficiency of glucoamylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204378013 Deficiency of gamma-amylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204379017 Deficiency of exo-1,4-alpha-glucosidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204380019 Deficiency of amyloglucosidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204381015 Deficiency of acid maltase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204382010 Deficiency of glucan 1,4-alpha-glucosidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728146018 Deficiency of glucan 1,4-alpha-glucosidase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7150781000146111 tekort aan glucaan-1,4-alfaglucosidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8337821000146119 glucaan-1,4-alfaglucosidasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8337841000146113 deficiëntie van glucaan-1,4-alfaglucosidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8717071000146119 glucaan-1,4-alfaglucosidasedeficiëntie (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 glucan 1,4-alpha-glucosidase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of glucan 1,4-alpha-glucosidase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chronic diarrhea due to glucoamylase deficiency (disorder)	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Some	5
Glycogen storage disease due to acid maltase deficiency	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Some	2
Glycogen storage disease due to acid maltase deficiency, infantile onset	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Some	2
Glycogen storage disease due to acid maltase deficiency, late-onset	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Some	2

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)