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Terminology chevron_right Concepts chevron_right 65327002

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Component

65327002

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis, mps-i-h (disorder)

Shortest Term

Gargoylism

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-i-h (disorder)

SCTID: 65327002, Primitive, Active

65327002|Mucopolysaccharidosis, mps-i-h (disorder)|

en Dysostosis multiplex syndrome
en Gargoylism
en Lipochondrodystrophy
en Mucopolysaccharidosis type i-h (disorder)
en Hurler disease mps type 1h
en Hurler-pfaundler syndrome
en Hurler's syndrome
en L-iduronidase deficiency, hurler type
en Mps 1-h - mucopolysaccharidosis type i-h
en Mucopolysaccharidosis, mps-i-h
en Mucopolysaccharidosis type i-h
en Mucopolysaccharidosis type i severe form

Expression

65327002 |Mucopolysaccharidosis, mps-i-h (disorder)|
 <<< 75610003 |Mucopolysaccharidosis, mps-i (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
108543015 - Dysostosis multiplex syndrome (en) View
108543015	en	Synonym (core metadata concept)	Dysostosis multiplex syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
108540017 - Gargoylism (en) View
108540017	en	Synonym (core metadata concept)	Gargoylism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
108539019 - Lipochondrodystrophy (en) View
108539019	en	Synonym (core metadata concept)	Lipochondrodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
804818015 - Mucopolysaccharidosis, MPS-I-H (disorder) (en) View
804818015	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis, MPS-I-H (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2971529014 - Mucopolysaccharidosis type I-H (disorder) (en) View
2971529014	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis type I-H (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
500081010 - Hurler disease MPS type 1H (en) View
500081010	en	Synonym (core metadata concept)	Hurler disease MPS type 1H	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
108542013 - Hurler-Pfaundler syndrome (en) View
108542013	en	Synonym (core metadata concept)	Hurler-Pfaundler syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
108541018 - Hurler's syndrome (en) View
108541018	en	Synonym (core metadata concept)	Hurler's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
108538010 - L-iduronidase deficiency, Hurler type (en) View
108538010	en	Synonym (core metadata concept)	L-iduronidase deficiency, Hurler type	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
500079013 - MPS 1-H - Mucopolysaccharidosis type I-H (en) View
500079013	en	Synonym (core metadata concept)	MPS 1-H - Mucopolysaccharidosis type I-H	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
108537017 - Mucopolysaccharidosis, MPS-I-H (en) View
108537017	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-I-H	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
500080011 - Mucopolysaccharidosis type I-H (en) View
500080011	en	Synonym (core metadata concept)	Mucopolysaccharidosis type I-H	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
500082015 - Mucopolysaccharidosis type I severe form (en) View
500082015	en	Synonym (core metadata concept)	Mucopolysaccharidosis type I severe form	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (836816027) - 65327002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (836814029) - 65327002 -> 24484000 (246112005) View
246112005 \|Severity (attribute)\|	24484000 \|Severe (severity modifier) (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (836815028) - 65327002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (254307021) - 65327002 -> 75610003 (116680003) View
116680003 \|Is a (attribute)\|	75610003 \|Mucopolysaccharidosis, mps-i (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
75610003 View
75610003	Mucopolysaccharidosis, mps-i (disorder)	Mps i	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 (3bc08174-7b88-50f5-8b3c-5d70f76c9234) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E76.0	TRUE	ALWAYS E76.0	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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