237967002: Lysosomal alpha-1,4-glucosidase deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

356657012 AMD - Acid maltase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356658019 alpha-Glucosidase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356659010 Glycogen storage disease type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356660017 alpha-1,4-Glucosidase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356661018 Lysosomal alpha-1,4-glucosidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356662013 Acid maltase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626778013 Lysosomal alpha-1,4-glucosidase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3443491000052116 glykogeninlagringssjukdom typ 2 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
glykogeninlagringssjukdom typ 2	Is a	Glycogen storage disease	false	Inferred relationship	Some
glykogeninlagringssjukdom typ 2	Occurrence	Congenital	false	Inferred relationship	Some
glykogeninlagringssjukdom typ 2	Finding site	Liver structure	false	Inferred relationship	Some
glykogeninlagringssjukdom typ 2	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
glykogeninlagringssjukdom typ 2	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
brist på lysosomal alfa-1,4-glukosidas, infantil debut	Is a	False	glykogeninlagringssjukdom typ 2	Inferred relationship	Some
brist på lysosomal alfa-1,4-glukosidas, juvenil debut	Is a	False	glykogeninlagringssjukdom typ 2	Inferred relationship	Some
brist på lysosomal alfa-1,4-glukosidas, vuxen debut	Is a	False	glykogeninlagringssjukdom typ 2	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)