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:

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

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

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
A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Some	5
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.	Due to	True	Deficiency of glucan 1,4-alpha-glucosidase	Inferred relationship	Some	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	Some	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	Some	2

This concept is not in any reference sets