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Terminology chevron_right Concepts chevron_right 7259005

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Component

7259005

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis iv-a (disorder)

Shortest Term

Morquio syndrome a

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 iv-a (disorder)

SCTID: 7259005, Primitive, Active

7259005|Mucopolysaccharidosis iv-a (disorder)|

en Galactosamine-6-sulfatase deficiency
en Galactosamine-6-sulphatase deficiency
en Galactose-6-sulfatase deficiency
en Galactose-6-sulphatase deficiency
en N-acetylgalactosamine-6-sulphatase deficiency
en Mucopolysaccharidosis iv-a (disorder)
en Morquio syndrome a
en Mps iv-a-mucopolysaccharidosis iv-a
en Mucopolysaccharidosis iv-a
en Morquio a syndrome
en Morquio's syndrome, classic form
en Mucopolysaccharidosis, mps-iv-a
en N-acetylgalactosamine-6-sulfatase deficiency

Expression

7259005 |Mucopolysaccharidosis iv-a (disorder)|
 <<< 378007 |Morquio syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1218386017 - Galactosamine-6-sulfatase deficiency (en) View
1218386017	en	Synonym (core metadata concept)	Galactosamine-6-sulfatase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1216900011 - Galactosamine-6-sulphatase deficiency (en) View
1216900011	en	Synonym (core metadata concept)	Galactosamine-6-sulphatase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1218385018 - Galactose-6-sulfatase deficiency (en) View
1218385018	en	Synonym (core metadata concept)	Galactose-6-sulfatase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1216899018 - Galactose-6-sulphatase deficiency (en) View
1216899018	en	Synonym (core metadata concept)	Galactose-6-sulphatase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
502163019 - N-acetylgalactosamine-6-sulphatase deficiency (en) View
502163019	en	Synonym (core metadata concept)	N-acetylgalactosamine-6-sulphatase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2970921014 - Mucopolysaccharidosis IV-A (disorder) (en) View
2970921014	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis IV-A (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
812884016 - Mucopolysaccharidosis, MPS-IV-A (disorder) (en) View
812884016	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis, MPS-IV-A (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
1233523016 - Morquio syndrome A (en) View
1233523016	en	Synonym (core metadata concept)	Morquio syndrome A	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1233521019 - MPS IV-A-Mucopolysaccharidosis IV-A (en) View
1233521019	en	Synonym (core metadata concept)	MPS IV-A-Mucopolysaccharidosis IV-A	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1233522014 - Mucopolysaccharidosis IV-A (en) View
1233522014	en	Synonym (core metadata concept)	Mucopolysaccharidosis IV-A	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
12987018 - Morquio A syndrome (en) View
12987018	en	Synonym (core metadata concept)	Morquio A syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
12985014 - Morquio's syndrome, classic form (en) View
12985014	en	Synonym (core metadata concept)	Morquio's syndrome, classic form	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
12984013 - Mucopolysaccharidosis, MPS-IV-A (en) View
12984013	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-IV-A	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
12986010 - N-acetylgalactosamine-6-sulfatase deficiency (en) View
12986010	en	Synonym (core metadata concept)	N-acetylgalactosamine-6-sulfatase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (854940029) - 7259005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12090708025) - 7259005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (854938023) - 7259005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (854941025) - 7259005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4970828022) - 7259005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4970829025) - 7259005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (854942021) - 7259005 -> 61496007 (363698007) View
363698007 \|Finding site (attribute)\|	61496007 \|Cartilaginous tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (854939026) - 7259005 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (266107026) - 7259005 -> 378007 (116680003) View
116680003 \|Is a (attribute)\|	378007 \|Morquio syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (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

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 (a525e4a5-d3e7-5cd4-93a6-607d6c9e2c68) 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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