124454007: Deficiency of glucan 1,4-alpha-glucosidase (disorder)

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:

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	Existential restriction modifier (core metadata concept)
Deficiency of glucan 1,4-alpha-glucosidase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

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	Existential restriction modifier (core metadata concept)	5
Glycogen storage disease due to acid maltase deficiency	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal.	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets

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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
204377015	Deficiency of glucoamylase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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
4774081000241116	déficit en glucan 1,4-alpha-glucosidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4774081000241116	déficit en glucan 1,4-alpha-glucosidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module