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Terminology chevron_right Concepts chevron_right 237967002

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Component

237967002

The component that hold information about this concept.

Fully Specified Name (FSN)

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

Shortest Term

Acid maltase deficiency

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

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

SCTID: 237967002, Primitive, Inactive

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

en Acid maltase deficiency
en Lysosomal alpha-1,4-glucosidase deficiency
en Lysosomal alpha-1,4-glucosidase deficiency (disorder)
en Glycogen storage disease type ii
en Alpha-1,4-glucosidase deficiency
en Alpha-glucosidase deficiency
en Amd - acid maltase deficiency

Expression

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

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356662013 - Acid maltase deficiency (en) View
356662013	en	Synonym (core metadata concept)	Acid maltase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
356661018 - Lysosomal alpha-1,4-glucosidase deficiency (en) View
356661018	en	Synonym (core metadata concept)	Lysosomal alpha-1,4-glucosidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
626778013 - Lysosomal alpha-1,4-glucosidase deficiency (disorder) (en) View
626778013	en	Fully specified name (core metadata concept)	Lysosomal alpha-1,4-glucosidase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
356659010 - Glycogen storage disease type II (en) View
356659010	en	Synonym (core metadata concept)	Glycogen storage disease type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
356663015 - Glycogen storage disease, type II (en) View
356663015	en	Synonym (core metadata concept)	Glycogen storage disease, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
356660017 - alpha-1,4-Glucosidase deficiency (en) View
356660017	en	Synonym (core metadata concept)	alpha-1,4-Glucosidase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
356658019 - alpha-Glucosidase deficiency (en) View
356658019	en	Synonym (core metadata concept)	alpha-Glucosidase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
356657012 - AMD - Acid maltase deficiency (en) View
356657012	en	Synonym (core metadata concept)	AMD - Acid maltase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (53599024) - 237967002 -> 29633007 (116680003) View
116680003 \|Is a (attribute)\|	29633007 \|Glycogen storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526957027) - 237967002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2476996021) - 237967002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526958021) - 237967002 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526959029) - 237967002 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (ec38a085-99e2-5add-be7e-18d6fe7ff7b5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.0	TRUE	ALWAYS E74.0	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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