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Terminology chevron_right Concepts chevron_right 88393000

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Component

88393000

The component that hold information about this concept.

Fully Specified Name (FSN)

Sanfilippo syndrome (disorder)

Shortest Term

Sanfilippo 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

Sanfilippo syndrome (disorder)

SCTID: 88393000, Primitive, Active

88393000|Sanfilippo syndrome (disorder)|

en Sanfilippo disease
en Sanfilippo syndrome (disorder)
en Mucopolysaccharidosis type iii
en Mucopolysaccharidosis, mps-iii
en Sanfilippo syndrome

Expression

88393000 |Sanfilippo syndrome (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
1235341014 - Sanfilippo disease (en) View
1235341014	en	Synonym (core metadata concept)	Sanfilippo disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
831067017 - Sanfilippo syndrome (disorder) (en) View
831067017	en	Fully specified name (core metadata concept)	Sanfilippo syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1235342019 - Mucopolysaccharidosis type III (en) View
1235342019	en	Synonym (core metadata concept)	Mucopolysaccharidosis type III	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
201403015 - Mucopolysaccharidosis, MPS-III (en) View
201403015	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-III	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
146555015 - Sanfilippo syndrome (en) View
146555015	en	Synonym (core metadata concept)	Sanfilippo syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
146556019 - Sanfilippo syndrome, NOS (en) View
146556019	en	Synonym (core metadata concept)	Sanfilippo syndrome, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (895951028) - 88393000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (895952024) - 88393000 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (292422024) - 88393000 -> 11380006 (116680003) View
116680003 \|Is a (attribute)\|	11380006 \|Mucopolysaccharidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (292423025) - 88393000 -> 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
15892005 View
15892005	Mucopolysaccharidosis iii-d (disorder)	Sanfilippo syndrome d	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
41572006 View
41572006	Mucopolysaccharidosis iii-a (disorder)	Sanfilippo syndrome a	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
59990008 View
59990008	Mucopolysaccharidosis iii-b (disorder)	Sanfilippo syndrome b	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
75238000 View
75238000	Mucopolysaccharidosis iii-c (disorder)	Sanfilippo syndrome c	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (b0c0f878-196e-5d28-8e8c-898ab7cf8af7) 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)\|

Terminology chevron_right Concepts chevron_right 88393000

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