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Terminology chevron_right Concepts chevron_right 722762005

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722762005
The component that hold information about this concept.
Ganglioside gm3 synthase deficiency (disorder)
Gm3 synthase deficiency
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

Ganglioside gm3 synthase deficiency (disorder)

SCTID: 722762005, Primitive, Active


722762005|Ganglioside gm3 synthase deficiency (disorder)|
  • en Amish infantile epilepsy syndrome
  • en Infantile-onset symptomatic epilepsy syndrome
  • en Ganglioside gm3 synthase deficiency
  • en Ganglioside gm3 synthase deficiency (disorder)
  • en Gm3 synthase deficiency

722762005 |Ganglioside gm3 synthase deficiency (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    128190004 |Inherited metabolic disorder of nervous system (disorder)| +
    128613002 |Seizure disorder (disorder)| +
    238017009 |Disorder of lipid storage and metabolism (disorder)|
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3526105012 - Amish infantile epilepsy syndrome (en) View

3526105012
en
Synonym (core metadata concept)
Amish infantile epilepsy syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3526106013 - Infantile-onset symptomatic epilepsy syndrome (en) View

3526106013
en
Synonym (core metadata concept)
Infantile-onset symptomatic epilepsy syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3333385010 - Ganglioside GM3 synthase deficiency (en) View

3333385010
en
Synonym (core metadata concept)
Ganglioside GM3 synthase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3333383015 - Ganglioside GM3 synthase deficiency (disorder) (en) View

3333383015
en
Fully specified name (core metadata concept)
Ganglioside GM3 synthase deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3333384014 - GM3 synthase deficiency (en) View

3333384014
en
Synonym (core metadata concept)
GM3 synthase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (6787842021) - 722762005 -> 91175000 (363705008) View

363705008 |Has definitional manifestation (attribute)|
91175000 |Seizure (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6787838023) - 722762005 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6787839026) - 722762005 -> 128190004 (116680003) View

116680003 |Is a (attribute)|
128190004 |Inherited metabolic disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6787840029) - 722762005 -> 128613002 (116680003) View

116680003 |Is a (attribute)|
128613002 |Seizure disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6787841025) - 722762005 -> 238017009 (116680003) View

116680003 |Is a (attribute)|
238017009 |Disorder of lipid storage and metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6787843027) - 722762005 -> 255399007 (246454002) View

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

Relationship (6787844022) - 722762005 -> 12738006 (363698007) View

363698007 |Finding site (attribute)|
12738006 |Brain structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

128190004 View

128190004
Inherited metabolic disorder of nervous system (disorder)
Inherited metabolic disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

128613002 View

128613002
Seizure disorder (disorder)
Bệnh co giật
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

238017009 View

238017009
Disorder of lipid storage and metabolism (disorder)
Disorder of lipid storage and metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (b7f48d5f-13df-5a9f-a572-9f0bdd062bf6) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E77.8
TRUE
ALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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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