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Terminology chevron_right Concepts chevron_right 238020001

Production
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238020001
The component that hold information about this concept.
Total hexosaminidase deficiency - adult (disorder)
Total hexosaminidase deficiency - adult
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 - adult (disorder)

SCTID: 238020001, Primitive, Active


238020001|Total hexosaminidase deficiency - adult (disorder)|
  • en Total hexosaminidase deficiency - adult
  • en Total hexosaminidase deficiency - adult (disorder)

238020001 |Total hexosaminidase deficiency - adult (disorder)|

<<< 23849003 |Sandhoff disease (disorder)| +
    49562005 |Adult chronic gm 2 gangliosidosis (disorder)| :
        { 246454002 |Occurrence (attribute)| = 41847000 |Adulthood (qualifier value)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

356757016 - Total hexosaminidase deficiency - adult (en) View

356757016
en
Synonym (core metadata concept)
Total hexosaminidase deficiency - adult
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

626840016 - Total hexosaminidase deficiency - adult (disorder) (en) View

626840016
en
Fully specified name (core metadata concept)
Total hexosaminidase deficiency - adult (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (527059020) - 238020001 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (527061027) - 238020001 -> 255399007 (246454002) View

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

Relationship (15120412025) - 238020001 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15120458029) - 238020001 -> 25087005 (363698007) View

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

Relationship (527060026) - 238020001 -> 41847000 (246454002) View

246454002 |Occurrence (attribute)|
41847000 |Adulthood (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (53666029) - 238020001 -> 23849003 (116680003) View

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

Relationship (53667022) - 238020001 -> 49562005 (116680003) View

116680003 |Is a (attribute)|
49562005 |Adult chronic gm 2 gangliosidosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

23849003 View

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

49562005 View

49562005
Adult chronic gm 2 gangliosidosis (disorder)
Adult chronic gm2 gangliosidosis
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (eae38bf5-6996-5654-ba6d-a9516fc83ca4) 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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