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Terminology chevron_right Concepts chevron_right 75238000

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Component

75238000

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis iii-c (disorder)

Shortest Term

Sanfilippo syndrome c

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 iii-c (disorder)

SCTID: 75238000, Primitive, Active

75238000|Mucopolysaccharidosis iii-c (disorder)|

en Heparan-alpha-glucosaminide acetyltransferase deficiency
en Mucopolysaccharidosis iii-c (disorder)
en N-acetyl transferase deficiency
en Mps iii-c - mucopolysaccharidosis iii-c
en Mpsiiic - mucopolysaccharidosis type iiic
en Sanfilippo syndrome c
en Acetyl-coa alpha-glucosaminide acetyltransferase deficiency
en Mucopolysaccharidosis iii-c
en Acetyl-coa: heparan-alpha-d-glucosaminide n-acetyltransferase deficiency
en Mucopolysaccharidosis, mps-iii-c
en Sanfilippo syndrome, type c

Expression

75238000 |Mucopolysaccharidosis iii-c (disorder)|
 <<< 88393000 |Sanfilippo syndrome (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
124960016 - Heparan-alpha-glucosaminide acetyltransferase deficiency (en) View
124960016	en	Synonym (core metadata concept)	Heparan-alpha-glucosaminide acetyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2970971012 - Mucopolysaccharidosis III-C (disorder) (en) View
2970971012	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis III-C (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
815825014 - Mucopolysaccharidosis, MPS-III-C (disorder) (en) View
815825014	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis, MPS-III-C (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
1233852010 - N-Acetyl transferase deficiency (en) View
1233852010	en	Synonym (core metadata concept)	N-Acetyl transferase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1233851015 - MPS III-C - Mucopolysaccharidosis III-C (en) View
1233851015	en	Synonym (core metadata concept)	MPS III-C - Mucopolysaccharidosis III-C	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1233854011 - MPSIIIC - Mucopolysaccharidosis type IIIC (en) View
1233854011	en	Synonym (core metadata concept)	MPSIIIC - Mucopolysaccharidosis type IIIC	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1233853017 - Sanfilippo syndrome C (en) View
1233853017	en	Synonym (core metadata concept)	Sanfilippo syndrome C	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1233849019 - Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency (en) View
1233849019	en	Synonym (core metadata concept)	Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1233850019 - Mucopolysaccharidosis III-C (en) View
1233850019	en	Synonym (core metadata concept)	Mucopolysaccharidosis III-C	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
124958018 - Acetyl-CoA: heparan-alpha-D-glucosaminide N-acetyltransferase deficiency (en) View
124958018	en	Synonym (core metadata concept)	Acetyl-CoA: heparan-alpha-D-glucosaminide N-acetyltransferase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
124957011 - Mucopolysaccharidosis, MPS-III-C (en) View
124957011	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-III-C	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
124959014 - Sanfilippo syndrome, type C (en) View
124959014	en	Synonym (core metadata concept)	Sanfilippo syndrome, type C	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (861627024) - 75238000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (861628025) - 75238000 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (270341020) - 75238000 -> 88393000 (116680003) View
116680003 \|Is a (attribute)\|	88393000 \|Sanfilippo syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
88393000 View
88393000	Sanfilippo syndrome (disorder)	Sanfilippo 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 (2bbb86d9-4eb9-5f75-af7a-edd516982dff) 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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