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Terminology chevron_right Concepts chevron_right 52677002

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52677002
The component that hold information about this concept.
Deficiency of n-acetylgalactosamine-4-sulfatase (disorder)
Deficiency of n-acetylgalactosamine-4-sulfatase
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

Deficiency of n-acetylgalactosamine-4-sulfatase (disorder)

SCTID: 52677002, Primitive, Active


52677002|Deficiency of n-acetylgalactosamine-4-sulfatase (disorder)|
  • en Deficiency of n-acetylgalactosamine-4-sulfatase
  • en Deficiency of n-acetylgalactosamine-4-sulfatase (disorder)
  • en Deficiency of n-acetylgalactosamine-4-sulphatase

52677002 |Deficiency of n-acetylgalactosamine-4-sulfatase (disorder)|

<<< 66521008 |Deficiency of cerebroside-sulfatase (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

87664011 - Deficiency of N-acetylgalactosamine-4-sulfatase (en) View

87664011
en
Synonym (core metadata concept)
Deficiency of N-acetylgalactosamine-4-sulfatase
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

790712016 - Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) (en) View

790712016
en
Fully specified name (core metadata concept)
Deficiency of N-acetylgalactosamine-4-sulfatase (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

496402013 - Deficiency of N-acetylgalactosamine-4-sulphatase (en) View

496402013
en
Synonym (core metadata concept)
Deficiency of N-acetylgalactosamine-4-sulphatase
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

66521008 View

66521008
Deficiency of cerebroside-sulfatase (disorder)
Deficiency of cerebroside-sulfatase
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

ExtendedMap object (17e9791f-c015-5802-84eb-12d0e5d6a885) 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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