Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 733636005

Production
add
733636005
The component that hold information about this concept.
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
3-phosphoglycerate dehydrogenase deficiency juvenile form
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

3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)

SCTID: 733636005, Primitive, Active


733636005|3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)|
  • en 3-phosphoglycerate dehydrogenase deficiency juvenile form
  • en 3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)

733636005 |3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)|

<<< 23853001 |Disorder of the central nervous system (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    128190004 |Inherited metabolic disorder of nervous system (disorder)| +
    303098002 |3-phosphoglycerate dehydrogenase deficiency (disorder)| :
        { 363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3472907011 - 3-phosphoglycerate dehydrogenase deficiency juvenile form (en) View

3472907011
en
Synonym (core metadata concept)
3-phosphoglycerate dehydrogenase deficiency juvenile form
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3472906019 - 3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) (en) View

3472906019
en
Fully specified name (core metadata concept)
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (7092672027) - 733636005 -> 23853001 (116680003) View

116680003 |Is a (attribute)|
23853001 |Disorder of the central nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7092673021) - 733636005 -> 85995004 (116680003) View

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

Relationship (7092674026) - 733636005 -> 128190004 (116680003) View

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

Relationship (7092675025) - 733636005 -> 303098002 (116680003) View

116680003 |Is a (attribute)|
303098002 |3-phosphoglycerate dehydrogenase deficiency (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (7092676029) - 733636005 -> 255399007 (246454002) View

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

Relationship (7092677022) - 733636005 -> 21483005 (363698007) View

363698007 |Finding site (attribute)|
21483005 |Structure of central nervous system (body structure)|
1
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

23853001 View

23853001
Disorder of the central nervous system (disorder)
Encephalomyeloneuropathy
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

303098002 View

303098002
3-phosphoglycerate dehydrogenase deficiency (disorder)
3-phosphoglycerate dehydrogenase deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (21556104-7145-5f25-abf3-6f6bdd556d4a) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E72.8
TRUE
ALWAYS E72.8
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)|
esc