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Terminology chevron_right Concepts chevron_right 238019007

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238019007
The component that hold information about this concept.
Total hexosaminidase deficiency - juvenile (disorder)
Total hexosaminidase deficiency - juvenile
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

Total hexosaminidase deficiency - juvenile (disorder)

SCTID: 238019007, Primitive, Active


238019007|Total hexosaminidase deficiency - juvenile (disorder)|
  • en Total hexosaminidase deficiency - juvenile
  • en Total hexosaminidase deficiency - juvenile (disorder)

238019007 |Total hexosaminidase deficiency - juvenile (disorder)|

<<< 23849003 |Sandhoff disease (disorder)| +
    9537004 |Juvenile gm 2 gangliosidosis (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

356756013 - Total hexosaminidase deficiency - juvenile (en) View

356756013
en
Synonym (core metadata concept)
Total hexosaminidase deficiency - juvenile
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

626839018 - Total hexosaminidase deficiency - juvenile (disorder) (en) View

626839018
en
Fully specified name (core metadata concept)
Total hexosaminidase deficiency - juvenile (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (527057022) - 238019007 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (527058028) - 238019007 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15120411021) - 238019007 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15120457023) - 238019007 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (1729761020) - 238019007 -> 255398004 (246454002) View

246454002 |Occurrence (attribute)|
255398004 |Childhood (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (53664026) - 238019007 -> 23849003 (116680003) View

116680003 |Is a (attribute)|
23849003 |Sandhoff disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (53665025) - 238019007 -> 9537004 (116680003) View

116680003 |Is a (attribute)|
9537004 |Juvenile gm 2 gangliosidosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

9537004 View

9537004
Juvenile gm 2 gangliosidosis (disorder)
Juvenile gm2 gangliosidosis
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

23849003 View

23849003
Sandhoff disease (disorder)
O variant
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (1ae97b7a-b880-5079-8952-dac0cf6ac8bc) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E75.0
TRUE
ALWAYS E75.0
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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