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Terminology chevron_right Concepts chevron_right 43916004

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Component

43916004

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis, mps-vii (disorder)

Shortest Term

Sly disease

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

Mucopolysaccharidosis, mps-vii (disorder)

SCTID: 43916004, Primitive, Active

43916004|Mucopolysaccharidosis, mps-vii (disorder)|

en Beta-glucuronidase deficiency
en Sly disease
en Sly syndrome
en Mucopolysaccharidosis type vii (disorder)
en Gusb deficiency
en Mps vii - mucopolysaccharidosis vii
en Mucopolysaccharidosis, mps-vii
en Mucopolysaccharidosis type vii

Expression

43916004 |Mucopolysaccharidosis, mps-vii (disorder)|
 <<< 11380006 |Mucopolysaccharidosis (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
73230013 - beta-Glucuronidase deficiency (en) View
73230013	en	Synonym (core metadata concept)	beta-Glucuronidase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
73232017 - GUS deficiency (en) View
73232017	en	Synonym (core metadata concept)	GUS deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
493712013 - Beta-glucuronidase deficiency (en) View
493712013	en	Synonym (core metadata concept)	Beta-glucuronidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
493710017 - Sly disease (en) View
493710017	en	Synonym (core metadata concept)	Sly disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
73229015 - Sly syndrome (en) View
73229015	en	Synonym (core metadata concept)	Sly syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
780984016 - Mucopolysaccharidosis, MPS-VII (disorder) (en) View
780984016	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis, MPS-VII (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2971858017 - Mucopolysaccharidosis type VII (disorder) (en) View
2971858017	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis type VII (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
73231012 - GUSB deficiency (en) View
73231012	en	Synonym (core metadata concept)	GUSB deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
493713015 - MPS VII - Mucopolysaccharidosis VII (en) View
493713015	en	Synonym (core metadata concept)	MPS VII - Mucopolysaccharidosis VII	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
73228011 - Mucopolysaccharidosis, MPS-VII (en) View
73228011	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-VII	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
493711018 - Mucopolysaccharidosis type VII (en) View
493711018	en	Synonym (core metadata concept)	Mucopolysaccharidosis type VII	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (781815029) - 43916004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (781816028) - 43916004 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (219554022) - 43916004 -> 11380006 (116680003) View
116680003 \|Is a (attribute)\|	11380006 \|Mucopolysaccharidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (219555023) - 43916004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
11380006 View
11380006	Mucopolysaccharidosis (disorder)	Mucopolysaccharidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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 (80814fac-18f5-5da3-ab8c-235bad471c52) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E76.2	TRUE	ALWAYS E76.2	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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