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Terminology chevron_right Concepts chevron_right 15892005

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Component

15892005

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis iii-d (disorder)

Shortest Term

Sanfilippo syndrome d

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-d (disorder)

SCTID: 15892005, Primitive, Active

15892005|Mucopolysaccharidosis iii-d (disorder)|

en N-acetylglucosamine-6-sulphatase deficiency
en Mucopolysaccharidosis iii-d (disorder)
en Deficiency of n-acetylglucosamine-6-sulfatase
en Deficiency of n-acetylglucosamine-6-sulphatase
en Mps iii-d - mucopolysaccharidosis iii-d
en Mpsiiid - mucopolysaccharidosis type iiid
en Mucopolysaccharidosis iii-d
en Mucopolysaccharidosis, mps-iii-d
en Mucopolysaccharidosis type iiid
en N-acetylglucosamine-6-sulfatase deficiency
en Sanfilippo syndrome d
en Sanfilippo syndrome, type d

Expression

15892005 |Mucopolysaccharidosis iii-d (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
477569018 - N-Acetylglucosamine-6-sulfatase deficiency (en) View
477569018	en	Synonym (core metadata concept)	N-Acetylglucosamine-6-sulfatase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
477568014 - N-Acetylglucosamine-6-sulphatase deficiency (en) View
477568014	en	Synonym (core metadata concept)	N-Acetylglucosamine-6-sulphatase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
477570017 - N-acetylglucosamine-6-sulphatase deficiency (en) View
477570017	en	Synonym (core metadata concept)	N-acetylglucosamine-6-sulphatase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2970859019 - Mucopolysaccharidosis III-D (disorder) (en) View
2970859019	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis III-D (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
742807018 - Mucopolysaccharidosis, MPS-III-D (disorder) (en) View
742807018	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis, MPS-III-D (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
477567016 - Deficiency of N-acetylglucosamine-6-sulfatase (en) View
477567016	en	Synonym (core metadata concept)	Deficiency of N-acetylglucosamine-6-sulfatase	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
477561015 - Deficiency of N-acetylglucosamine-6-sulphatase (en) View
477561015	en	Synonym (core metadata concept)	Deficiency of N-acetylglucosamine-6-sulphatase	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
477563017 - MPS III-D - Mucopolysaccharidosis III-D (en) View
477563017	en	Synonym (core metadata concept)	MPS III-D - Mucopolysaccharidosis III-D	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
477562010 - MPSIIID - Mucopolysaccharidosis type IIID (en) View
477562010	en	Synonym (core metadata concept)	MPSIIID - Mucopolysaccharidosis type IIID	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
477566013 - Mucopolysaccharidosis III-D (en) View
477566013	en	Synonym (core metadata concept)	Mucopolysaccharidosis III-D	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
26923019 - Mucopolysaccharidosis, MPS-III-D (en) View
26923019	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-III-D	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
477564011 - Mucopolysaccharidosis type IIID (en) View
477564011	en	Synonym (core metadata concept)	Mucopolysaccharidosis type IIID	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
26925014 - N-acetylglucosamine-6-sulfatase deficiency (en) View
26925014	en	Synonym (core metadata concept)	N-acetylglucosamine-6-sulfatase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
477565012 - Sanfilippo syndrome D (en) View
477565012	en	Synonym (core metadata concept)	Sanfilippo syndrome D	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
26924013 - Sanfilippo syndrome, type D (en) View
26924013	en	Synonym (core metadata concept)	Sanfilippo syndrome, type D	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (709072023) - 15892005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (709073029) - 15892005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (171943023) - 15892005 -> 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 (2abc5773-dc1f-512e-bac9-29d7fb44e995) 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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