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Terminology chevron_right Concepts chevron_right 11380006

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Component

11380006

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis (disorder)

Shortest Term

Mucopolysaccharidosis

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 (disorder)

SCTID: 11380006, Primitive, Active

11380006|Mucopolysaccharidosis (disorder)|

en Mucopolysaccharidosis
en Mucopolysaccharidosis (disorder)
en Mps - mucopolysaccharidosis

Expression

11380006 |Mucopolysaccharidosis (disorder)|
 <<< 23585005 |Disorder of lysosomal enzyme (disorder)| + 
28821000119102 |Lysosomal storage disease (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
19694018 - Mucopolysaccharidosis (en) View
19694018	en	Synonym (core metadata concept)	Mucopolysaccharidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
652628017 - Mucopolysaccharidosis (disorder) (en) View
652628017	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
388474016 - MPS - Mucopolysaccharidosis (en) View
388474016	en	Synonym (core metadata concept)	MPS - Mucopolysaccharidosis	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
19695017 - Mucopolysaccharidosis, NOS (en) View
19695017	en	Synonym (core metadata concept)	Mucopolysaccharidosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686645027) - 11380006 -> 28821000119102 (116680003) View
116680003 \|Is a (attribute)\|	28821000119102 \|Lysosomal storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (586789020) - 11380006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (586790027) - 11380006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (82542027) - 11380006 -> 23585005 (116680003) View
116680003 \|Is a (attribute)\|	23585005 \|Disorder of lysosomal enzyme (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
28821000119102 View
28821000119102	Lysosomal storage disease (disorder)	Lysosomal storage disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23585005 View
23585005	Disorder of lysosomal enzyme (disorder)	Lysosomal enzyme defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
378007 View
378007	Morquio syndrome (disorder)	Morquio disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
43916004 View
43916004	Mucopolysaccharidosis, mps-vii (disorder)	Sly disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
69463008 View
69463008	Maroteaux-lamy syndrome (disorder)	Arsb deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70737009 View
70737009	Mucopolysaccharidosis, mps-ii (disorder)	Hunter disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
75610003 View
75610003	Mucopolysaccharidosis, mps-i (disorder)	Mps i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
88393000 View
88393000	Sanfilippo syndrome (disorder)	Sanfilippo disease	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 (72324710-50b0-5058-a6aa-bf15bfbd1026) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E76.3	TRUE	ALWAYS E76.3	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 11380006

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