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Terminology chevron_right Concepts chevron_right 130197005

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Component

130197005

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of n-acetylgalactosamine-6-sulfatase (finding)

Shortest Term

Deficiency of chondroitinase

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Deficiency of n-acetylgalactosamine-6-sulfatase (finding)

SCTID: 130197005, Defined, Active

130197005|Deficiency of n-acetylgalactosamine-6-sulfatase (finding)|

vi Thiếu hụt enzym n - acetylgalactosamine - 6 - sulfatase (phát hiện)
en Deficiency of chondroitinase
en Deficiency of chondroitinsulfatase
en Deficiency of chondroitinsulphatase
en Deficiency of galactose-6-sulfate sulfatase
en Deficiency of galactose-6-sulphate sulphatase
en Deficiency of n-acetylgalactosamine-6-sulfatase
en Deficiency of n-acetylgalactosamine-6-sulfatase (finding)
en Deficiency of n-acetylgalactosamine-6-sulphatase

Expression

130197005 |Deficiency of n-acetylgalactosamine-6-sulfatase (finding)|
 === 442686002 |Measurement finding below reference range (finding)| + 
365767001 |Finding of enzyme level (finding)| + 
365799007 |Finding of protein level (finding)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 104824002 |N-acetylgalactosamine-6-sulfatase measurement (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2008676 - Thiếu hụt enzym N - acetylgalactosamine - 6 - sulfatase (phát hiện) (vi) View
2008676	vi	Synonym (core metadata concept)	Thiếu hụt enzym N - acetylgalactosamine - 6 - sulfatase (phát hiện)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
209247014 - Deficiency of chondroitinase (en) View
209247014	en	Synonym (core metadata concept)	Deficiency of chondroitinase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
209249012 - Deficiency of chondroitinsulfatase (en) View
209249012	en	Synonym (core metadata concept)	Deficiency of chondroitinsulfatase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
474915016 - Deficiency of chondroitinsulphatase (en) View
474915016	en	Synonym (core metadata concept)	Deficiency of chondroitinsulphatase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
209248016 - Deficiency of galactose-6-sulfate sulfatase (en) View
209248016	en	Synonym (core metadata concept)	Deficiency of galactose-6-sulfate sulfatase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
474916015 - Deficiency of galactose-6-sulphate sulphatase (en) View
474916015	en	Synonym (core metadata concept)	Deficiency of galactose-6-sulphate sulphatase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
209250012 - Deficiency of N-acetylgalactosamine-6-sulfatase (en) View
209250012	en	Synonym (core metadata concept)	Deficiency of N-acetylgalactosamine-6-sulfatase	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
734437016 - Deficiency of N-acetylgalactosamine-6-sulfatase (finding) (en) View
734437016	en	Fully specified name (core metadata concept)	Deficiency of N-acetylgalactosamine-6-sulfatase (finding)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
474917012 - Deficiency of N-acetylgalactosamine-6-sulphatase (en) View
474917012	en	Synonym (core metadata concept)	Deficiency of N-acetylgalactosamine-6-sulphatase	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15216759027) - 130197005 -> 365799007 (116680003) View
116680003 \|Is a (attribute)\|	365799007 \|Finding of protein level (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (350516025) - 130197005 -> 127360003 (116680003) View
116680003 \|Is a (attribute)\|	127360003 \|Abnormal quantity of physiologic substance (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3597428027) - 130197005 -> 122869004 (363714003) View
363714003 \|Interprets (attribute)\|	122869004 \|Measurement procedure (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13670815027) - 130197005 -> 442686002 (116680003) View
116680003 \|Is a (attribute)\|	442686002 \|Measurement finding below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13670816026) - 130197005 -> 365767001 (116680003) View
116680003 \|Is a (attribute)\|	365767001 \|Finding of enzyme level (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13670817024) - 130197005 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13670818025) - 130197005 -> 104824002 (363714003) View
363714003 \|Interprets (attribute)\|	104824002 \|N-acetylgalactosamine-6-sulfatase measurement (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2793364028) - 130197005 -> 15220000 (363714003) View
363714003 \|Interprets (attribute)\|	15220000 \|Laboratory test (procedure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2878119029) - 130197005 -> 71388002 (418775008) View
418775008 \|Finding method (attribute)\|	71388002 \|Procedure (procedure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
365767001 View
365767001	Finding of enzyme level (finding)	Enzyme level	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
365799007 View
365799007	Finding of protein level (finding)	Protein level	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
442686002 View
442686002	Measurement finding below reference range (finding)	Measurement finding below reference range	900000000000073002 \|Sufficiently defined by necessary conditions 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 (397d42b8-8bf6-5a0a-b64d-dc022e57a955) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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)\|
ExtendedMap object (5495c369-5c1e-55d8-8d9a-c5d5941d651a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|

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