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Terminology chevron_right Concepts chevron_right 59990008

Production

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Component

59990008

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis iii-b (disorder)

Shortest Term

Sanfilippo syndrome b

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 iii-b (disorder)

SCTID: 59990008, Primitive, Active

59990008|Mucopolysaccharidosis iii-b (disorder)|

en Mucopolysaccharidosis iii-b (disorder)
en Mps iii-b - mucopolysaccharidosis iii-b
en Mpsiiib - mucopolysaccharidosis type iiib
en Sanfilippo syndrome b
en Alpha-n-acetylglucosaminidase deficiency
en Mucopolysaccharidosis iii-b
en N-acetyl-alpha-d-glucosaminidase deficiency
en Alpha-n-acetylglucosaminidase deficiency
en Mucopolysaccharidosis, mps-iii-b
en Sanfilippo syndrome, type b

Expression

59990008 |Mucopolysaccharidosis iii-b (disorder)|
 <<< 88393000 |Sanfilippo syndrome (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2970944012 - Mucopolysaccharidosis III-B (disorder) (en) View
2970944012	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis III-B (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
798893019 - Mucopolysaccharidosis, MPS-III-B (disorder) (en) View
798893019	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis, MPS-III-B (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
1232023015 - MPS III-B - Mucopolysaccharidosis III-B (en) View
1232023015	en	Synonym (core metadata concept)	MPS III-B - Mucopolysaccharidosis III-B	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1232026011 - MPSIIIB - Mucopolysaccharidosis type IIIB (en) View
1232026011	en	Synonym (core metadata concept)	MPSIIIB - Mucopolysaccharidosis type IIIB	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1232024014 - Sanfilippo syndrome B (en) View
1232024014	en	Synonym (core metadata concept)	Sanfilippo syndrome B	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1232025010 - Alpha-N-acetylglucosaminidase deficiency (en) View
1232025010	en	Synonym (core metadata concept)	Alpha-N-acetylglucosaminidase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1232028012 - Mucopolysaccharidosis III-B (en) View
1232028012	en	Synonym (core metadata concept)	Mucopolysaccharidosis III-B	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1232027019 - N-Acetyl-alpha-D-glucosaminidase deficiency (en) View
1232027019	en	Synonym (core metadata concept)	N-Acetyl-alpha-D-glucosaminidase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
99656010 - alpha-N-acetylglucosaminidase deficiency (en) View
99656010	en	Synonym (core metadata concept)	alpha-N-acetylglucosaminidase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
99654013 - Mucopolysaccharidosis, MPS-III-B (en) View
99654013	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-III-B	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
99655014 - Sanfilippo syndrome, type B (en) View
99655014	en	Synonym (core metadata concept)	Sanfilippo syndrome, type B	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (823295021) - 59990008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (823296022) - 59990008 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (245685022) - 59990008 -> 88393000 (116680003) View
116680003 \|Is a (attribute)\|	88393000 \|Sanfilippo syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
88393000 View
88393000	Sanfilippo syndrome (disorder)	Sanfilippo disease	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 (808469f4-7ce1-5de5-aaef-6ba4a7d7897d) 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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