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Terminology chevron_right Concepts chevron_right 71253000

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71253000
The component that hold information about this concept.
Tay-sachs disease, variant ab (disorder)
Ab variant
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

Tay-sachs disease, variant ab (disorder)

SCTID: 71253000, Primitive, Active


71253000|Tay-sachs disease, variant ab (disorder)|
  • en Hexosaminidase activator deficiency
  • en Ab variant
  • en Gm2 activator deficiency
  • en Tay-sachs disease, variant ab (disorder)
  • en Gm>2< gangliosidosis, type ab
  • en Tay-sachs disease, variant ab

71253000 |Tay-sachs disease, variant ab (disorder)|

<<< 111385000 |Tay-sachs disease (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

118326011 - Hexosaminidase activator deficiency (en) View

118326011
en
Synonym (core metadata concept)
Hexosaminidase activator deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

1233371015 - AB variant (en) View

1233371015
en
Synonym (core metadata concept)
AB variant
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

1233370019 - GM2 activator deficiency (en) View

1233370019
en
Synonym (core metadata concept)
GM2 activator deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

811399010 - Tay-Sachs disease, variant AB (disorder) (en) View

811399010
en
Fully specified name (core metadata concept)
Tay-Sachs disease, variant AB (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

118327019 - GM>2< gangliosidosis, type AB (en) View

118327019
en
Synonym (core metadata concept)
GM>2< gangliosidosis, type AB
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

118325010 - Tay-Sachs disease, variant AB (en) View

118325010
en
Synonym (core metadata concept)
Tay-Sachs disease, variant AB
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (851499023) - 71253000 -> 255399007 (246454002) View

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

Relationship (851500025) - 71253000 -> 25087005 (363698007) View

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

Relationship (263953027) - 71253000 -> 111385000 (116680003) View

116680003 |Is a (attribute)|
111385000 |Tay-sachs disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

111385000 View

111385000
Tay-sachs disease (disorder)
Tsd
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (a9c16dd7-47ee-567a-850e-8e697779b98a) 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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